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.
Bélien
Valérie
V
Medical genetics, Hôpital Robert Debré, Paris, France.
Gérard-Blanluet
Marion
M
Serero
Stéphane
S
Le Dû
Nathalie
N
Baumann
Clarisse
C
Jacquemont
Marie-Line
ML
Dupont
Céline
C
Krabchi
Kada
K
Drunat
Séverine
S
Elbez
Annie
A
Janaud
Jean-Claude
JC
Benzacken
Brigitte
B
Verloes
Alain
A
Tabet
Anne-Claude
AC
Aboura
Azzedine
A
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