PMID- 20635409
OWN - NLM
STAT- MEDLINE
DCOM- 20101115
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 152A
IP  - 8
DP  - 2010 Aug
TI  - X chromosome monosomy restricted to the left ventricle is not a major cause of 
      isolated hypoplastic left heart.
PG  - 1967-72
LID - 10.1002/ajmg.a.33538 [doi]
AB  - Hypoplastic left heart sequence (HLHS) encompasses obstructive lesions of the 
      left side of the heart accompanied by varying degrees of underdevelopment of the 
      mitral valve, either atresia or stenosis, left ventricle, aortic valve, and 
      ascending aorta. HLHS has an incidence of 0.016-0.036% live births and can occur 
      as an isolated defect or several different chromosome abnormalities. In 
      particular, about 20% of patients with monosomy X, have HLHS, suggesting a 
      relationship between this form of aneuploidy and this congenital heart defect 
      (CHD). Somatic mutations restricted to the cardiac affected structure have been 
      considered a mechanism of CHD. The aim of this study was to evaluate if monosomy 
      X restricted to the left ventricle causes isolated HLHS. Formalin-fixed, 
      paraffin-embedded cardiac tissue obtained from 19 patients with HLHS (10 males 
      and 9 females) without extra cardiac anomalies and with a normal constitutional 
      karyotype, were investigated by FISH analysis, using X/Y/18 centromeric probes. 
      The results of this analysis were compared with those obtained by examining the 
      heart specimens of 15 chromosomally normal pediatric patients affected by either 
      restrictive or dilated cardiomyopathy, which were used as negative controls. 
      Mosaic monosomy X was detected in the cardiac tissue nuclei of both groups, with 
      similar frequencies (6-16% and 12-16%, respectively), suggesting that chromosome 
      X monosomy is not rare in this tissue, but is not a major cause of isolated HLHS.
FAU - Bernardini, Laura
AU  - Bernardini L
AD  - IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
FAU - Giuffrida, Maria Grazia
AU  - Giuffrida MG
FAU - Francalanci, Paola
AU  - Francalanci P
FAU - Capalbo, Anna
AU  - Capalbo A
FAU - Novelli, Antonio
AU  - Novelli A
FAU - Callea, Francesco
AU  - Callea F
FAU - Dallapiccola, Bruno
AU  - Dallapiccola B
LA  - eng
PT  - Journal Article
PT  - Randomized Controlled Trial
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  - Chromosomes, Human, X/*genetics
MH  - Female
MH  - Heart Defects, Congenital/diagnosis/*genetics
MH  - Humans
MH  - Hypoplastic Left Heart Syndrome/diagnosis/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Monosomy/*genetics
EDAT- 2010/07/17 06:00
MHDA- 2010/11/16 06:00
CRDT- 2010/07/17 06:00
PHST- 2010/07/17 06:00 [entrez]
PHST- 2010/07/17 06:00 [pubmed]
PHST- 2010/11/16 06:00 [medline]
AID - 10.1002/ajmg.a.33538 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2010 Aug;152A(8):1967-72. doi: 10.1002/ajmg.a.33538.