Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region.
Recent reports of patients with interstitial deletions involving the long arm of chromosome 12 have led to the proposal of a candidate region for the cardio-facio-cutaneous syndrome (CFCS) at (12)(q21.2q22). We now report a patient with an interstitial deletion, del(12)(q21.1q21.3) that overlaps the proposed critical region. The patient is an 11-year-old female with developmental delay. Her growth was normal but she is microcephalic with low set ears. In common with other patients with deletions in this region, she had fine, sparse head and eyebrow hair and a hyperkeratotic follicular rash, which involved her face and limbs. She does not have the diagnostic features of the CFC syndrome.
James
Paul A
PA
Northern Regional Genetic Service, Auckland Hospital, Auckland, New Zealand.
Oei
Paul
P
Ng
Daniel
D
Kannu
Peter
P
Aftimos
Salim
S
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology; D003937:Diagnosis, Differential; D004423:Ear / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008831:Microcephaly / Q000473:pathology; D012868:Skin Abnormalities / Q000473:pathology; D013577:Syndrome