PMID- 20681991
OWN - NLM
STAT- MEDLINE
DCOM- 20110802
LR  - 20171116
IS  - 1399-0004 (Electronic)
IS  - 0009-9163 (Linking)
VI  - 79
IP  - 5
DP  - 2011 May
TI  - Pseudoautosomal inheritance of Leri-Weill syndrome: what does it mean?
PG  - 489-94
LID - 10.1111/j.1399-0004.2010.01488.x [doi]
AB  - The short stature homeobox (SHOX) gene is located in the pseudoautosomal region 1 
      of both sex chromosomes. Haploinsufficiency of SHOX leads to different phenotypes 
      ranging from isolated short stature to Leri-Weill syndrome characterized by short 
      stature, mesomelia and Madelung deformity. We describe a family with a SHOX 
      deletion originally located on the Y chromosome and transmitted from father to 
      daughter by crossover during meiosis. The male index patient presented with short 
      stature, mesomelia and mild Madelung deformity. His father had a normal height 
      but slightly disproportionate short legs. The sister of the index patient 
      presented with marked Madelung deformity and normal height. A deletion of the 
      SHOX gene was identified in the male index patient, his father and his sister. 
      Metaphase fluorescence in situ hybridization (FISH) analyses showed a deletion of 
      the SHOX gene on the Y chromosomes of the index patient and his father, and on 
      the X chromosome of his sister, indicating that a meiotic crossover of the SHOX 
      gene region between the X and Y chromosomes had occurred. The pseudoautosomal 
      region 1 is a known recombination 'hot spot' in male meiosis. Published genetic 
      maps indicate high recombination frequency of  approximately 40% for SHOX in male meiosis 
      leading to pseudoautosomal inheritance.
CI  - (c) 2010 John Wiley & Sons A/S.
FAU - Evers, C
AU  - Evers C
AD  - Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
FAU - Heidemann, P H
AU  - Heidemann PH
FAU - Dunstheimer, D
AU  - Dunstheimer D
FAU - Schulze, E
AU  - Schulze E
FAU - Haag, C
AU  - Haag C
FAU - Janssen, J W G
AU  - Janssen JW
FAU - Fischer, C
AU  - Fischer C
FAU - Jauch, A
AU  - Jauch A
FAU - Moog, U
AU  - Moog U
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (Homeodomain Proteins)
RN  - 0 (SHOX protein, human)
RN  - 0 (Short Stature Homeobox Protein)
RN  - Leri-Weil syndrome
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Disorders/*genetics
MH  - Female
MH  - Growth Disorders/genetics
MH  - Homeodomain Proteins/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Osteochondrodysplasias/genetics
MH  - Pedigree
MH  - Short Stature Homeobox Protein
EDAT- 2010/08/05 06:00
MHDA- 2011/08/04 06:00
CRDT- 2010/08/05 06:00
PHST- 2010/08/05 06:00 [entrez]
PHST- 2010/08/05 06:00 [pubmed]
PHST- 2011/08/04 06:00 [medline]
AID - CGE1488 [pii]
AID - 10.1111/j.1399-0004.2010.01488.x [doi]
PST - ppublish
SO  - Clin Genet. 2011 May;79(5):489-94. doi: 10.1111/j.1399-0004.2010.01488.x.