PMID- 15658620
OWN - NLM
STAT- MEDLINE
DCOM- 20050421
LR  - 20071115
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 15
IP  - 4
DP  - 2004
TI  - A new case of a severe clinical phenotype of the cat-eye syndrome.
PG  - 443-8
AB  - A new case of severe clinical phenotype of the cat-eye syndrome: We report on a 
      female infant with severe clinical phenotype of Cat-Eye Syndrome (CES). At birth, 
      she had respiratory distress and marked hypotonia. Physical examination showed 
      major craniofacial anomalies including microcephaly, bilateral total absence of 
      the external ears, hypertelorism, bilateral ocular coloboma of iris and 
      micrognathia. In addition, she had anal stenosis, a patent ductus arteriosus and 
      intra- and extra- hepatic biliary atresia. She deteriorated with the development 
      of bradycardia. She died at age one month of cardiac failure. Cytogenetic 
      analysis of the proband showed an extra de novo small bisatelllited marker 
      chromosome in all cells examined. Molecular cytogenetic analysis with 
      fluorescence in situ hybridization (FISH) identified the marker as a CES 
      chromosome. Thus, the patient's karyotype was: 47, XX, +idic(22)(pter-->q11.2 
      ::q11.2-->pter). The duplication breakpoints giving rise to the CES chromosome 
      were distal to the DiGeorge Syndrome (DGS) locus 22q11.2. The marker could be 
      classed as a type 11 symmetrical (10). According to a recent review of CES 
      literature (1) only 41 % of the CES patients have the combination of iris 
      coloboma, anal anomalies and preauricular anomalies. Almost 60% are hard to 
      recognize by their phenotype alone. Only twelve patients showed a severe clinical 
      phenotype leading to the death of the child. This phenotypic variability 
      increases the difficulties of genetic counseling.
FAU - Denavit, T Martin
AU  - Denavit TM
AD  - Laboratoire de Cytogenetique et d'Embryologie Pathologique, Hopital Saint-Antoine 
      Paris, France. tanguy.martin-denavit@chu-lyon.fr
FAU - Malan, V
AU  - Malan V
FAU - Grillon, C
AU  - Grillon C
FAU - Sanlaville, D
AU  - Sanlaville D
FAU - Ardalan, A
AU  - Ardalan A
FAU - Jacquemont, M L
AU  - Jacquemont ML
FAU - Burglen, L
AU  - Burglen L
FAU - Taillemite, J L
AU  - Taillemite JL
FAU - Portnoi, M F
AU  - Portnoi MF
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Anal Canal/abnormalities
MH  - Bradycardia/diagnosis/physiopathology
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Coloboma/*genetics
MH  - Constriction, Pathologic/genetics
MH  - Craniofacial Abnormalities/*genetics
MH  - Cytogenetics/methods
MH  - Ear/abnormalities
MH  - Fatal Outcome
MH  - Female
MH  - Gene Duplication
MH  - Genetic Counseling
MH  - Genetic Markers
MH  - Heart Failure/diagnosis/physiopathology
MH  - Humans
MH  - Hypertelorism/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Microcephaly/*genetics
MH  - Phenotype
MH  - Severity of Illness Index
MH  - Syndrome
EDAT- 2005/01/22 09:00
MHDA- 2005/04/22 09:00
CRDT- 2005/01/22 09:00
PHST- 2005/01/22 09:00 [pubmed]
PHST- 2005/04/22 09:00 [medline]
PHST- 2005/01/22 09:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2004;15(4):443-8.