PMID- 15211662
OWN - NLM
STAT- MEDLINE
DCOM- 20041222
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 128A
IP  - 1
DP  - 2004 Jul 1
TI  - Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 
      translocation [46,X,der(X),t(X;1)(q28;q32.1)].
PG  - 72-7
AB  - We report a case of an X;1 translocation in a 9-month-old female infant with mild 
      dysmorphic features and developmental delay. High-resolution chromosome analysis 
      revealed a de novo, unbalanced translocation between chromosomes X and 1 
      [46,X,der(X),t(X;1)(q28;q32.1)]. Breakpoints on the derivative X and the size of 
      the translocated segment have been defined by fluorescence in situ hybridization 
      (FISH) with Xq and 1q specific probes. The rearrangement in this patient results 
      in monosomy for Xq28-qter and trisomy for 1q32.1-qter. Replication studies 
      demonstrated late replication of the derivative X in 80% of the observed cells, 
      with the exception of 20% of the cells where X inactivation failed to spread into 
      the translocated 1q segment. Patients with pure trisomy for the distal segment of 
      1q present a considerably more severe phenotype compared to that seen in our 
      patient, including facial dysmorphisms, urogenital and cardiac anomalies. We 
      suggest that the absence of many of the characteristic features for trisomy 1q in 
      our patient, may reflect a mosaic pattern of inactivation of the translocated 
      autosomal segment on the derivative X chromosome.
CI  - Copyright 2004 Wiley-Liss, Inc.
FAU - Yatsenko, Svetlana A
AU  - Yatsenko SA
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas 
      Children's Hospital, Clinical Care Center, 6621 Fannin, Houston, TX 77030, USA.
FAU - Sahoo, Trilochan
AU  - Sahoo T
FAU - Rosenkranz, Melinda
AU  - Rosenkranz M
FAU - Mendoza-Londono, Roberto
AU  - Mendoza-Londono R
FAU - Naeem, Rizwan
AU  - Naeem R
FAU - Scaglia, Fernando
AU  - Scaglia F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, X/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Phenotype
MH  - Severity of Illness Index
MH  - *Translocation, Genetic
MH  - Trisomy/*genetics
EDAT- 2004/06/24 05:00
MHDA- 2004/12/23 09:00
CRDT- 2004/06/24 05:00
PHST- 2004/06/24 05:00 [pubmed]
PHST- 2004/12/23 09:00 [medline]
PHST- 2004/06/24 05:00 [entrez]
AID - 10.1002/ajmg.a.30094 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Jul 1;128A(1):72-7. doi: 10.1002/ajmg.a.30094.