De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).
We report a case of a 9 month old girl with a de novo interstitial deletion of 1p, karyotype 46,XX, del(1)(pter----p34.1::p32.3----qter). She had dysmorphic features including upward slanting palpebral fissures, a bulbous nose, a long philtrum, low set and malformed ears, a short neck, hypoplastic nails on both index fingers, widened interdigital spaces between the toes, dilated lateral ventricles, right hydronephrosis, a dilated right ureter, mental and motor developmental delay, and generalised hypotonia.
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
M
M
Yoshino
Y
Y
Watanabe
N
N
Harada
K
K
Abe
D000015:Abnormalities, Multiple / Q000235:genetics*; D002461:Cell Line, Transformed; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006257:Head / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype