Further delineation of X-linked mental retardation

Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological c...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Herbst, D. S. [verfasserIn] Dunn, H. G. [verfasserIn] Dill, F. J. [verfasserIn] Kalousek, D. K. [verfasserIn] Krywaniuk, L. W. [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	1981

Schlagwörter:	Fragile Site Testicular Volume Obligate Carrier Peabody Picture Vocabulatory Test Chromosome Fragile Site

Übergeordnetes Werk:	Enthalten in: Human genetics - Berlin : Springer, 1964, 58(1981), 4 vom: 01. Okt., Seite 366-372
Übergeordnetes Werk:	volume:58 ; year:1981 ; number:4 ; day:01 ; month:10 ; pages:366-372

Links:	Volltext

DOI / URN:	10.1007/BF00282817

Katalog-ID:	SPR006215815

Internformat


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035			\|a (DE-627)SPR006215815
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040			\|a DE-627 \|b ger \|c DE-627 \|e rakwb
041			\|a eng
082	0	4	\|a 610 \|q ASE
084			\|a 44.48 \|2 bkl
100	1		\|a Herbst, D. S. \|e verfasserin \|4 aut
245	1	0	\|a Further delineation of X-linked mental retardation
264		1	\|c 1981
336			\|a Text \|b txt \|2 rdacontent
337			\|a Computermedien \|b c \|2 rdamedia
338			\|a Online-Ressource \|b cr \|2 rdacarrier
520			\|a Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological charateristics, such as lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site.
650		4	\|a Fragile Site \|7 (dpeaa)DE-He213
650		4	\|a Testicular Volume \|7 (dpeaa)DE-He213
650		4	\|a Obligate Carrier \|7 (dpeaa)DE-He213
650		4	\|a Peabody Picture Vocabulatory Test \|7 (dpeaa)DE-He213
650		4	\|a Chromosome Fragile Site \|7 (dpeaa)DE-He213
700	1		\|a Dunn, H. G. \|e verfasserin \|4 aut
700	1		\|a Dill, F. J. \|e verfasserin \|4 aut
700	1		\|a Kalousek, D. K. \|e verfasserin \|4 aut
700	1		\|a Krywaniuk, L. W. \|e verfasserin \|4 aut
773	0	8	\|i Enthalten in \|t Human genetics <Berlin> \|d Berlin : Springer, 1964 \|g 58(1981), 4 vom: 01. Okt., Seite 366-372 \|w (DE-627)253723973 \|w (DE-600)1459188-1 \|x 1432-1203 \|7 nnns
773	1	8	\|g volume:58 \|g year:1981 \|g number:4 \|g day:01 \|g month:10 \|g pages:366-372
856	4	0	\|u https://dx.doi.org/10.1007/BF00282817 \|z lizenzpflichtig \|3 Volltext
912			\|a GBV_USEFLAG_A
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912			\|a GBV_ILN_20
912			\|a GBV_ILN_22
912			\|a GBV_ILN_23
912			\|a GBV_ILN_24
912			\|a GBV_ILN_31
912			\|a GBV_ILN_32
912			\|a GBV_ILN_39
912			\|a GBV_ILN_40
912			\|a GBV_ILN_60
912			\|a GBV_ILN_62
912			\|a GBV_ILN_63
912			\|a GBV_ILN_65
912			\|a GBV_ILN_69
912			\|a GBV_ILN_70
912			\|a GBV_ILN_73
912			\|a GBV_ILN_74
912			\|a GBV_ILN_90
912			\|a GBV_ILN_95
912			\|a GBV_ILN_100
912			\|a GBV_ILN_101
912			\|a GBV_ILN_105
912			\|a GBV_ILN_110
912			\|a GBV_ILN_120
912			\|a GBV_ILN_121
912			\|a GBV_ILN_138
912			\|a GBV_ILN_150
912			\|a GBV_ILN_151
912			\|a GBV_ILN_152
912			\|a GBV_ILN_161
912			\|a GBV_ILN_170
912			\|a GBV_ILN_171
912			\|a GBV_ILN_187
912			\|a GBV_ILN_206
912			\|a GBV_ILN_224
912			\|a GBV_ILN_285
912			\|a GBV_ILN_293
912			\|a GBV_ILN_370
912			\|a GBV_ILN_374
912			\|a GBV_ILN_602
912			\|a GBV_ILN_647
912			\|a GBV_ILN_702
912			\|a GBV_ILN_2001
912			\|a GBV_ILN_2003
912			\|a GBV_ILN_2004
912			\|a GBV_ILN_2005
912			\|a GBV_ILN_2006
912			\|a GBV_ILN_2007
912			\|a GBV_ILN_2008
912			\|a GBV_ILN_2009
912			\|a GBV_ILN_2010
912			\|a GBV_ILN_2011
912			\|a GBV_ILN_2014
912			\|a GBV_ILN_2015
912			\|a GBV_ILN_2018
912			\|a GBV_ILN_2020
912			\|a GBV_ILN_2021
912			\|a GBV_ILN_2025
912			\|a GBV_ILN_2026
912			\|a GBV_ILN_2027
912			\|a GBV_ILN_2031
912			\|a GBV_ILN_2034
912			\|a GBV_ILN_2037
912			\|a GBV_ILN_2038
912			\|a GBV_ILN_2039
912			\|a GBV_ILN_2043
912			\|a GBV_ILN_2044
912			\|a GBV_ILN_2048
912			\|a GBV_ILN_2050
912			\|a GBV_ILN_2055
912			\|a GBV_ILN_2056
912			\|a GBV_ILN_2057
912			\|a GBV_ILN_2059
912			\|a GBV_ILN_2061
912			\|a GBV_ILN_2064
912			\|a GBV_ILN_2065
912			\|a GBV_ILN_2068
912			\|a GBV_ILN_2088
912			\|a GBV_ILN_2093
912			\|a GBV_ILN_2106
912			\|a GBV_ILN_2107
912			\|a GBV_ILN_2108
912			\|a GBV_ILN_2110
912			\|a GBV_ILN_2111
912			\|a GBV_ILN_2112
912			\|a GBV_ILN_2113
912			\|a GBV_ILN_2116
912			\|a GBV_ILN_2118
912			\|a GBV_ILN_2119
912			\|a GBV_ILN_2122
912			\|a GBV_ILN_2129
912			\|a GBV_ILN_2143
912			\|a GBV_ILN_2144
912			\|a GBV_ILN_2147
912			\|a GBV_ILN_2148
912			\|a GBV_ILN_2152
912			\|a GBV_ILN_2153
912			\|a GBV_ILN_2158
912			\|a GBV_ILN_2188
912			\|a GBV_ILN_2190
912			\|a GBV_ILN_2193
912			\|a GBV_ILN_2232
912			\|a GBV_ILN_2336
912			\|a GBV_ILN_2446
912			\|a GBV_ILN_2470
912			\|a GBV_ILN_2472
912			\|a GBV_ILN_2507
912			\|a GBV_ILN_2522
912			\|a GBV_ILN_2548
912			\|a GBV_ILN_2808
912			\|a GBV_ILN_4012
912			\|a GBV_ILN_4035
912			\|a GBV_ILN_4037
912			\|a GBV_ILN_4046
912			\|a GBV_ILN_4112
912			\|a GBV_ILN_4125
912			\|a GBV_ILN_4126
912			\|a GBV_ILN_4242
912			\|a GBV_ILN_4246
912			\|a GBV_ILN_4249
912			\|a GBV_ILN_4251
912			\|a GBV_ILN_4277
912			\|a GBV_ILN_4305
912			\|a GBV_ILN_4306
912			\|a GBV_ILN_4307
912			\|a GBV_ILN_4313
912			\|a GBV_ILN_4322
912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
912			\|a GBV_ILN_4326
912			\|a GBV_ILN_4328
912			\|a GBV_ILN_4333
912			\|a GBV_ILN_4334
912			\|a GBV_ILN_4335
912			\|a GBV_ILN_4336
912			\|a GBV_ILN_4338
912			\|a GBV_ILN_4346
912			\|a GBV_ILN_4367
912			\|a GBV_ILN_4393
912			\|a GBV_ILN_4700
912			\|a GBV_ILN_4753
936	b	k	\|a 44.48 \|q ASE
951			\|a AR
952			\|d 58 \|j 1981 \|e 4 \|b 01 \|c 10 \|h 366-372

Indexfelder

author_variant	d s h ds dsh h g d hg hgd f j d fj fjd d k k dk dkk l w k lw lwk
matchkey_str	article:14321203:1981----::utedlnainflnemna
hierarchy_sort_str	1981
bklnumber	44.48
publishDate	1981
allfields	10.1007/BF00282817 doi (DE-627)SPR006215815 (SPR)BF00282817-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Herbst, D. S. verfasserin aut Further delineation of X-linked mental retardation 1981 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological charateristics, such as lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site. Fragile Site (dpeaa)DE-He213 Testicular Volume (dpeaa)DE-He213 Obligate Carrier (dpeaa)DE-He213 Peabody Picture Vocabulatory Test (dpeaa)DE-He213 Chromosome Fragile Site (dpeaa)DE-He213 Dunn, H. G. verfasserin aut Dill, F. J. verfasserin aut Kalousek, D. K. verfasserin aut Krywaniuk, L. W. verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 58(1981), 4 vom: 01. Okt., Seite 366-372 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:58 year:1981 number:4 day:01 month:10 pages:366-372 https://dx.doi.org/10.1007/BF00282817 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_121 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_224 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_374 GBV_ILN_602 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2043 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2158 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2193 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2808 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4346 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_4753 44.48 ASE AR 58 1981 4 01 10 366-372
spelling	10.1007/BF00282817 doi (DE-627)SPR006215815 (SPR)BF00282817-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Herbst, D. S. verfasserin aut Further delineation of X-linked mental retardation 1981 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological charateristics, such as lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site. Fragile Site (dpeaa)DE-He213 Testicular Volume (dpeaa)DE-He213 Obligate Carrier (dpeaa)DE-He213 Peabody Picture Vocabulatory Test (dpeaa)DE-He213 Chromosome Fragile Site (dpeaa)DE-He213 Dunn, H. G. verfasserin aut Dill, F. J. verfasserin aut Kalousek, D. K. verfasserin aut Krywaniuk, L. W. verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 58(1981), 4 vom: 01. Okt., Seite 366-372 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:58 year:1981 number:4 day:01 month:10 pages:366-372 https://dx.doi.org/10.1007/BF00282817 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_121 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_224 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_374 GBV_ILN_602 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2043 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2158 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2193 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2808 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4346 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_4753 44.48 ASE AR 58 1981 4 01 10 366-372
allfields_unstemmed	10.1007/BF00282817 doi (DE-627)SPR006215815 (SPR)BF00282817-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Herbst, D. S. verfasserin aut Further delineation of X-linked mental retardation 1981 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological charateristics, such as lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site. Fragile Site (dpeaa)DE-He213 Testicular Volume (dpeaa)DE-He213 Obligate Carrier (dpeaa)DE-He213 Peabody Picture Vocabulatory Test (dpeaa)DE-He213 Chromosome Fragile Site (dpeaa)DE-He213 Dunn, H. G. verfasserin aut Dill, F. J. verfasserin aut Kalousek, D. K. verfasserin aut Krywaniuk, L. W. verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 58(1981), 4 vom: 01. Okt., Seite 366-372 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:58 year:1981 number:4 day:01 month:10 pages:366-372 https://dx.doi.org/10.1007/BF00282817 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_121 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_224 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_374 GBV_ILN_602 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2043 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2158 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2193 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2808 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4346 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_4753 44.48 ASE AR 58 1981 4 01 10 366-372
allfieldsGer	10.1007/BF00282817 doi (DE-627)SPR006215815 (SPR)BF00282817-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Herbst, D. S. verfasserin aut Further delineation of X-linked mental retardation 1981 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological charateristics, such as lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site. Fragile Site (dpeaa)DE-He213 Testicular Volume (dpeaa)DE-He213 Obligate Carrier (dpeaa)DE-He213 Peabody Picture Vocabulatory Test (dpeaa)DE-He213 Chromosome Fragile Site (dpeaa)DE-He213 Dunn, H. G. verfasserin aut Dill, F. J. verfasserin aut Kalousek, D. K. verfasserin aut Krywaniuk, L. W. verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 58(1981), 4 vom: 01. Okt., Seite 366-372 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:58 year:1981 number:4 day:01 month:10 pages:366-372 https://dx.doi.org/10.1007/BF00282817 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_121 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_224 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_374 GBV_ILN_602 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2043 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2158 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2193 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2808 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4346 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_4753 44.48 ASE AR 58 1981 4 01 10 366-372
allfieldsSound	10.1007/BF00282817 doi (DE-627)SPR006215815 (SPR)BF00282817-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Herbst, D. S. verfasserin aut Further delineation of X-linked mental retardation 1981 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological charateristics, such as lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site. Fragile Site (dpeaa)DE-He213 Testicular Volume (dpeaa)DE-He213 Obligate Carrier (dpeaa)DE-He213 Peabody Picture Vocabulatory Test (dpeaa)DE-He213 Chromosome Fragile Site (dpeaa)DE-He213 Dunn, H. G. verfasserin aut Dill, F. J. verfasserin aut Kalousek, D. K. verfasserin aut Krywaniuk, L. W. verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 58(1981), 4 vom: 01. Okt., Seite 366-372 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:58 year:1981 number:4 day:01 month:10 pages:366-372 https://dx.doi.org/10.1007/BF00282817 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_121 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_224 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_374 GBV_ILN_602 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2043 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2158 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2193 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_2808 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4346 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_4753 44.48 ASE AR 58 1981 4 01 10 366-372
language	English
source	Enthalten in Human genetics <Berlin> 58(1981), 4 vom: 01. Okt., Seite 366-372 volume:58 year:1981 number:4 day:01 month:10 pages:366-372
sourceStr	Enthalten in Human genetics <Berlin> 58(1981), 4 vom: 01. Okt., Seite 366-372 volume:58 year:1981 number:4 day:01 month:10 pages:366-372
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Fragile Site Testicular Volume Obligate Carrier Peabody Picture Vocabulatory Test Chromosome Fragile Site
dewey-raw	610
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container_title	Human genetics <Berlin>
authorswithroles_txt_mv	Herbst, D. S. @@aut@@ Dunn, H. G. @@aut@@ Dill, F. J. @@aut@@ Kalousek, D. K. @@aut@@ Krywaniuk, L. W. @@aut@@
publishDateDaySort_date	1981-10-01T00:00:00Z
hierarchy_top_id	253723973
dewey-sort	3610
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language_de	englisch
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S.</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Further delineation of X-linked mental retardation</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">1981</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. 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author	Herbst, D. S.
spellingShingle	Herbst, D. S. ddc 610 bkl 44.48 misc Fragile Site misc Testicular Volume misc Obligate Carrier misc Peabody Picture Vocabulatory Test misc Chromosome Fragile Site Further delineation of X-linked mental retardation
authorStr	Herbst, D. S.
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topic_title	610 ASE 44.48 bkl Further delineation of X-linked mental retardation Fragile Site (dpeaa)DE-He213 Testicular Volume (dpeaa)DE-He213 Obligate Carrier (dpeaa)DE-He213 Peabody Picture Vocabulatory Test (dpeaa)DE-He213 Chromosome Fragile Site (dpeaa)DE-He213
topic	ddc 610 bkl 44.48 misc Fragile Site misc Testicular Volume misc Obligate Carrier misc Peabody Picture Vocabulatory Test misc Chromosome Fragile Site
topic_unstemmed	ddc 610 bkl 44.48 misc Fragile Site misc Testicular Volume misc Obligate Carrier misc Peabody Picture Vocabulatory Test misc Chromosome Fragile Site
topic_browse	ddc 610 bkl 44.48 misc Fragile Site misc Testicular Volume misc Obligate Carrier misc Peabody Picture Vocabulatory Test misc Chromosome Fragile Site
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title	Further delineation of X-linked mental retardation
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title_full	Further delineation of X-linked mental retardation
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title_sort	further delineation of x-linked mental retardation
title_auth	Further delineation of X-linked mental retardation
abstract	Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological charateristics, such as lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site.
abstractGer	Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological charateristics, such as lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site.
abstract_unstemmed	Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological charateristics, such as lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site.
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container_issue	4
title_short	Further delineation of X-linked mental retardation
url	https://dx.doi.org/10.1007/BF00282817
remote_bool	true
author2	Dunn, H. G. Dill, F. J. Kalousek, D. K. Krywaniuk, L. W.
author2Str	Dunn, H. G. Dill, F. J. Kalousek, D. K. Krywaniuk, L. W.
ppnlink	253723973
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isOA_txt	false
hochschulschrift_bool	false
doi_str	10.1007/BF00282817
up_date	2024-07-03T21:35:17.405Z
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S.</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Further delineation of X-linked mental retardation</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">1981</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Summary Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. 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score	7.3989916

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Further delineation of X-linked mental retardation

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