Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
We report on a patient with a microdeletion of chromosome region 9q22.32q31.1 including the PTCH1 gene (human homologue of the Drosophila patched 1 gene), review the findings in the reported patients with similar array CGH findings, and highlight the non nevoid basal cell carcinoma/non-Gorlin syndrome findings at an earlier age. These are macrocephaly, neonatal hypotonia, severe psychomotor retardation with markedly delayed motor milestones and speech development, epicanthic folds, a thin upper lip, a short and wide/webbed neck, pectus excavatum and (kypho)scoliosis. These features should alert the physician to an early diagnosis of the microdeletion and allow the initiation of essential clinical management hereof.
de Ravel
Thomy J L
TJ
Centre for Human Genetics, UZ Leuven, Herestraat 49, 3000 Leuven, Belgium. thomy.deravel@uzleuven.be
Ameye
Liliane
L
Ballon
Katleen
K
Borghgraef
Martine
M
Vermeesch
Joris R
JR
Devriendt
Koen
K
D000015:Abnormalities, Multiple / Q000235:genetics; D002280:Basal Cell Carcinoma / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D019957:Motor Skills Disorders; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics; D013064:Speech Disorders; D013577:Syndrome
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface