TY - JOUR
T1 - Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect
AU - Goodman, Barbara K.
AU - Capone, George T.
AU - Hennessey, Jill
AU - Thomas, George H.
N1 - Copyright:
Copyright 2007 Elsevier B.V., All rights reserved.
PY - 1997/12/12
Y1 - 1997/12/12
N2 - We describe a family carrying a direct duplication of an interstitial segment of the distal long arm of chromosome 4(q31.1q32.3) with a mild clinical phenotype. Affected family members include a 27-year-old woman and 2 of her 4 children, 1 of whom also has Klinefelter syndrome. Although 8 cases of simple duplications or insertions of 4q material have been described, only 3 include bands q31-q32, and these involve additional adjacent material. Affected members of the pedigree reported here have some of the manifestations of previously described cases of duplication 4q, but are less severely affected, suggesting that the genetic material in this region is well tolerated as a partial trisomy.
AB - We describe a family carrying a direct duplication of an interstitial segment of the distal long arm of chromosome 4(q31.1q32.3) with a mild clinical phenotype. Affected family members include a 27-year-old woman and 2 of her 4 children, 1 of whom also has Klinefelter syndrome. Although 8 cases of simple duplications or insertions of 4q material have been described, only 3 include bands q31-q32, and these involve additional adjacent material. Affected members of the pedigree reported here have some of the manifestations of previously described cases of duplication 4q, but are less severely affected, suggesting that the genetic material in this region is well tolerated as a partial trisomy.
KW - Interstitial duplication 4q
KW - Psychomotor retardation
KW - Tandem duplication 4q
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U2 - 10.1002/(SICI)1096-8628(19971212)73:2<119::AID-AJMG3>3.0.CO;2-P
DO - 10.1002/(SICI)1096-8628(19971212)73:2<119::AID-AJMG3>3.0.CO;2-P
M3 - Article
C2 - 9409859
AN - SCOPUS:0030819236
VL - 73
SP - 119
EP - 124
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -