PMID- 11050625
OWN - NLM
STAT- MEDLINE
DCOM- 20001107
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 94
IP  - 5
DP  - 2000 Oct 23
TI  - Distal 5q trisomy resulting from an X;5 translocation detected by chromosome 
      painting.
PG  - 392-9
AB  - We describe the case of a 13-year-old girl with an apparently de novo unbalanced 
      translocation resulting in the presence of additional chromosomal material on the 
      short arm of one X chromosome, which was detected by conventional G-banding 
      studies. Fluorescence in situ hybridization (FISH) using the Chromoprobe 
      Multiprobe-M protocol confirmed that the additional chromosomal material 
      originated from chromosome 5. The karyotype of this patient is now established to 
      be 46,X,der(X) t(X;5)(p22.3;q33), with a deletion of Xp22.3-pter and partial 
      trisomy of 5q33-qter. The distal 5q trisomy genotype has been associated with 
      clinical signs that include growth and mental retardation, eczema, craniofacial 
      anomalies, and malformations of heart, lungs, abdomen, limbs, and genitalia. Our 
      patient also has short stature, a prominent nasal bridge, a flat philtrum, a thin 
      upper lip, dental caries, and limb and cardiac malformations, but she appears to 
      be mildly affected compared with previously reported cases. This is the first 
      case of distal 5q trisomy arising from a translocation with the X chromosome. 
      Replication studies on this patient show that the derivative t(X;5) chromosome is 
      late replicating in almost all cells examined, which indicates that this 
      chromosome is preferentially inactivated. However, the translocated segment of 
      chromosome 5 appears to be early replicating, which implies that the trisomic 5q 
      segment is transcriptionally active. We cannot determine from these studies 
      whether all or only some genes in this segment are expressed, but this patient's 
      relatively mild clinical signs suggest that the critical region(s) that 
      contribute to the distal 5q trisomy phenotype are at least partly suppressed. A 
      review of other patients with X-chromosome translocations indicates that many but 
      not all of them also have attenuated phenotypes. The mechanism of inactivation of 
      autosomal material attached to the X chromosome is complex, with varying effects 
      on the phenotype of the patients that depend on the nature of the autosomal 
      chromatin. Replication studies are of limited utility in predicting expression of 
      autosomal genes involved in X-chromosome translocations.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Abuelo, D N
AU  - Abuelo DN
AD  - Division of Genetics, Rhode Island Hospital, Providence, Rhode Island. 
      dabuelo@lifespan.org
FAU - Ahsanuddin, A N
AU  - Ahsanuddin AN
FAU - Mark, H F
AU  - Mark HF
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/genetics/pathology
MH  - Adolescent
MH  - Chromosome Banding
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Female
MH  - Growth Disorders
MH  - Humans
MH  - Karyotyping
MH  - Nose/abnormalities
MH  - *Translocation, Genetic
MH  - *Trisomy
MH  - X Chromosome/*genetics
EDAT- 2000/10/26 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/10/26 11:00
PHST- 2000/10/26 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/10/26 11:00 [entrez]
AID - 10.1002/1096-8628(20001023)94:5<392::AID-AJMG10>3.0.CO;2-H [pii]
AID - 10.1002/1096-8628(20001023)94:5<392::aid-ajmg10>3.0.co;2-h [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Oct 23;94(5):392-9. doi: 
      10.1002/1096-8628(20001023)94:5<392::aid-ajmg10>3.0.co;2-h.