Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion.
We report a patient with a unique combination of features, including microcephaly; mental retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism; alopecia universalis; single maxillary central incisor; taurodontism; median palatal ridge; longitudinally grooved nails; and scoliosis. His unbalanced karyotype was found to be 45,XY,der(15;18)(q10;q10). The constellation of anomalies appears to represent a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene responsible for hereditary hypotrichosis simplex. The phenotype of our patient differs other reported patients with del(18p). Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation.
Kantaputra
Piranit N
PN
Faculty of Dentistry, Department of Pediatric Dentistry, Chiang Mai University, Chiang Mai, Bangkok, Thailand. dnpdi001@chiangmai.ac.th
Limwongse
Chanin
C
Tochareontanaphol
Chintana
C
Mutirangura
Apiwat
A
Mevatee
Umnat
U
Praphanphoj
Verayuth
V
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D016142:Holoprosencephaly / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics / Q000378:metabolism; D013577:Syndrome
D018398:Homeodomain Proteins; D012097:Repressor Proteins; C097504:TGIF1 protein, human