Holoprosencephaly and interstitial deletion of 2(p2101p2109).
We report on a girl with holoprosencephaly and a small, de novo interstitial deletion of most of band 2(p21). The similarity between the cytogenetic findings and CNS malformations in our patient and those recently reported by Münke et al. [Am J Med Genet 30:929-938, 1988] suggests a phenotypic relationship between deletion of this band and holoprosencephaly.
Wilson
W G
WG
Department of Pediatrics, University of Virginia Health Sciences Center, Charlottesville 22908.
Shanks
D E
DE
Sudduth
K W
KW
Couper
K A
KA
McIlhenny
J
J
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011877:Radionuclide Imaging; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D015898:Tomography Scanners, X-Ray Computed