Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome.
We report on two brothers with moderate-to-severe mental retardation, severe macrocephaly, obesity, characteristic face, big hands and feet, advanced bone age and brain abnormalities, including frontal cortical atrophy. These two boys resembled the two brothers described by , two maternal cousins subsequently reported by and a Brazilian boy described by . Upon further investigation, we detected a cryptic subtelomeric deletion of chromosome region 22q13, not present in either parent and probably due to a maternal germinal mosaicism. Thus, we describe the first familial case of 22q13 deletion and recommend that patients with a phenotype suggestive of the so-called Clark-Baraitser syndrome be tested for submicroscopic 22qter deletion.
Tabolacci
Elisabetta
E
Institute of Medical Genetics, Catholic University, Rome, Italy Department of Neurological and Psychiatric Sciences, University of Rome 'La Sapienza', Italy Pediatrics, Human Genetics, Obstetrics and Ginecology, University of Utah, Salt Lake City, Utah.
Zollino
Marcella
M
Lecce
Rosetta
R
Sangiorgi
Eugenio
E
Gurrieri
Fiorella
F
Leuzzi
Vincenzo
V
Opitz
John M
JM
Neri
Giovanni
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004247:DNA / Q000032:analysis / Q000235:genetics; D003937:Diagnosis, Differential; D004591:Electrophoresis, Polyacrylamide Gel; D005145:Face / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics / Q000473:pathology; D009765:Obesity / Q000473:pathology; D035781:Siblings; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D004247:DNA