Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature.

Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature.

Item
http://www.wikidata.org/entity/Q41647559
Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation conditionA 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.Prader-Willi-like syndrome in a patient with an Xq23q25 duplication.A case report of two male siblings with autism and duplication of Xq13-q21, a region including three genes predisposing for autism.Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.
P2860

Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature.

Item
http://www.wikidata.org/entity/Q41647559
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Inherited inverted duplication ...... and review of the literature.
@en
type
label
Inherited inverted duplication ...... and review of the literature.
@en
prefLabel
Inherited inverted duplication ...... and review of the literature.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Inherited inverted duplication ...... and review of the literature.
@en
P2093
P2860
P304
P31
P356
10.1002/(SICI)1096-8628(19971112)72:4<409::AID-AJMG7>3.0.CO;2-L
P433
P478
P577
P698