PMID- 14981722
OWN - NLM
STAT- MEDLINE
DCOM- 20040928
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 125A
IP  - 2
DP  - 2004 Mar 1
TI  - Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.
PG  - 186-90
AB  - Chromosomal rearrangements involving both chromosome Y and chromosome 22 are 
      rare, and may result in a number of different phenotypes. We report on a 
      4-year-old child with short stature and a dicentric chromosome with a deletion of 
      the distal end of chromosome Yp. The pregnancy was uneventful, until 
      intra-uterine growth retardation was noted. Prenatal karyotyping showed a (Y;22) 
      translocation. No structural fetal abnormality was shown at ultrasound 
      examination, and the pregnancy went to term. A growth-retarded boy with an 
      otherwise normal physical examination was delivered at 39 weeks. At age 4, the 
      child had short stature (-3 SD) without mental retardation. Radiological 
      examination of the wrist was normal. A blood karyotype confirmed the chromosomal 
      rearrangement previously seen on the amniotic fluid cells. C-banding showed a 
      dicentric chromosome, and fluorescence in situ hybridization (FISH) with 
      centromeric probes confirmed the presence of both chromosome Y and 22 centromeres 
      on the derivative chromosome. The karyotype was thus 
      45,X,der(Y;22)(p11;q11)del(Y)(p11p11). Our patient's phenotype and chromosomal 
      rearrangement prompted us to further investigate the distal Yp region. FISH using 
      a subtelomeric probe showed a deletion of the distal Yp region. This technique 
      also revealed that this chromosomal rearrangement resulted in the deletion of 
      SHOX but not SRY. Although haploinsufficiency of SHOX may result in Leri-Weill 
      Dyschondrosteosis, this diagnosis did not seem obvious in this young patient. 
      This observation confirms the importance of FISH in the investigation of 
      chromosomal abnormalities, and further delineates the phenotype of SHOX deleted 
      patients.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Borie, C
AU  - Borie C
AD  - Cytogenetics Unit, Hospital Robert Debre, Paris, France.
FAU - Leger, J
AU  - Leger J
FAU - Dupuy, O
AU  - Dupuy O
FAU - Hassan, M
AU  - Hassan M
FAU - Ledu, N
AU  - Ledu N
FAU - Lebbar, A
AU  - Lebbar A
FAU - Czernichow, P
AU  - Czernichow P
FAU - Eydoux, P
AU  - Eydoux P
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
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (SHOX protein, human)
RN  - 0 (SRY protein, human)
RN  - 0 (Sex-Determining Region Y Protein)
RN  - 0 (Short Stature Homeobox Protein)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Body Height/genetics
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Chromosomes, Human, Y/*genetics
MH  - DNA-Binding Proteins/genetics
MH  - Female
MH  - *Gene Deletion
MH  - Growth Disorders/*genetics/pathology
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Nuclear Proteins/genetics
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Sex-Determining Region Y Protein
MH  - Short Stature Homeobox Protein
MH  - Transcription Factors/genetics
MH  - Translocation, Genetic/*genetics
EDAT- 2004/02/26 05:00
MHDA- 2004/09/29 05:00
CRDT- 2004/02/26 05:00
PHST- 2004/02/26 05:00 [pubmed]
PHST- 2004/09/29 05:00 [medline]
PHST- 2004/02/26 05:00 [entrez]
AID - 10.1002/ajmg.a.20346 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Mar 1;125A(2):186-90. doi: 10.1002/ajmg.a.20346.