Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.
Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the approximately 60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3-month-old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous pulmonary venous return. Cytogenetic analysis showed the presence of a supernumerary marker chromosome, identified by fluorescence in situ hybridization as part of chromosome 22, and conferring a proximal partial trisomy 22q22.21, not encompassing the DiGeorge critical region (RP11-154H4 + , TBX1-). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q.
Medical genetics, Hôpital Robert Debré, Paris, France.
Valérie
V
Bélien
Marion
M
Gérard-Blanluet
Stéphane
S
Serero
Nathalie
N
Le Dû
Clarisse
C
Baumann
Marie-Line
ML
Jacquemont
Céline
C
Dupont
Kada
K
Krabchi
Séverine
S
Drunat
Annie
A
Elbez
Jean-Claude
JC
Janaud
Brigitte
B
Benzacken
Alain
A
Verloes
Anne-Claude
AC
Tabet
Azzedine
A
Aboura
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000782:Aneuploidy; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003103:Coloboma / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D010641:Phenotype; D011247:Pregnancy; D011667:Pulmonary Veins / Q000002:abnormalities; D013577:Syndrome