PMID- 15793841
OWN - NLM
STAT- MEDLINE
DCOM- 20050627
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 134
IP  - 4
DP  - 2005 May 1
TI  - Functional disomy of Xp: prenatal findings and postnatal outcome.
PG  - 393-8
AB  - We report on trisomy of the short arm of the X chromosome (Xp11.2 --> pter) due 
      to a de novo unbalanced X;13 translocation diagnosed prenatally in a female 
      fetus. Amniocentesis was performed at 20-weeks' gestation following ultrasound 
      finding of a Dandy-Walker malformation. The trisomy of Xp11.2 --> pter was 
      confirmed with fluorescence in situ hybridization (FISH), using an X chromosome 
      painting probe and telomeric FISH probes specific for the short arm of chromosome 
      X. The karyotype was defined as 46,XX,der(13)t(X;13)(p11.2;p11.2). Molecular 
      analysis suggested that the extra Xp material was of paternal origin. FISH 
      analysis with an XIST probe showed that the derivative chromosome 13 did not 
      include the XIST locus at the X-inactivation center (XIC). A complex phenotype 
      was seen at birth including macrosomia, facial dysmorphism with preauricular tag, 
      congenital heart defects, and structural brain malformations. Because the 
      derivative chromosome was not subject to X inactivation, functional disomy of 
      Xp11.2 --> pter most likely accounts for the abnormal phenotype in this patient.
CI  - 2005 Wiley-Liss, Inc.
FAU - Kolomietz, E
AU  - Kolomietz E
AD  - Department of Laboratory Medicine and Pathobiology, Mount Sinai Hospital, 
      University of Toronto, Toronto, Ontario, Canada. ekolomietz@mtsinai.on.ca
FAU - Godbole, K
AU  - Godbole K
FAU - Winsor, E J T
AU  - Winsor EJ
FAU - Stockley, T
AU  - Stockley T
FAU - Seaward, G
AU  - Seaward G
FAU - Chitayat, D
AU  - Chitayat D
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Amniocentesis
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 13/genetics
MH  - Chromosomes, Human, X/*genetics
MH  - Fatal Outcome
MH  - Female
MH  - Haplotypes
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Microsatellite Repeats/genetics
MH  - Pregnancy
MH  - *Sex Chromosome Aberrations
MH  - Translocation, Genetic
EDAT- 2005/03/29 09:00
MHDA- 2005/06/28 09:00
CRDT- 2005/03/29 09:00
PHST- 2005/03/29 09:00 [pubmed]
PHST- 2005/06/28 09:00 [medline]
PHST- 2005/03/29 09:00 [entrez]
AID - 10.1002/ajmg.a.30652 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 May 1;134(4):393-8. doi: 10.1002/ajmg.a.30652.