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Journals and Conferences
Deletions of chromosome 18q are among the most common segmental aneusomies compatible with life. The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med. Genet. 69:280-286]. Most deletions are terminal encompassing as much as 36 Mb, but interstitial deletions… (More)
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. The genetic causes of HPE have recently begun to be identified, and we have previously shown that HPE can be caused by haploinsufficiency for SONIC HEDGEHOG (SHH). We hypothesize… (More)
Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly… (More)
Recently, a new clinically recognizable syndrome resulting from a small interstitial deletion of 17p [del(17)(p11.2p11.2)] was described in ten unrelated patients. We have identified six additional patients with similar cytogenetic and phenotypic abnormalities. Consistent clinical manifestations include 1) brachycephaly with a broad face and nasal bridge,… (More)
Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation… (More)
We report on a 17-month-old boy with Wormian bones, short stature, growth hormone deficiency, developmental delay, brachycamptodactyly, dextrocardia, cryptorchidism, midshaft hypospadias, hypoplastic left kidney, and imperforate anus. This unique combination of abnormalities has not been reported previously.
Chromosomal microarray analysis (CMA) by array-based comparative genomic hybridization (CGH) is a new clinical test for the detection of well-characterized genomic disorders caused by chromosomal deletions and duplications that result in gene copy number variation (CNV). This powerful assay detects an abnormality in approximately 7-9% of patients with… (More)
Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). The diagnostic criteria for all three require the presence of congenital muscular dystrophy, and criteria for MEB and WWS require retinal abnormalities. We report… (More)
Recently it has been shown that most cases of the Miller-Dieker syndrome (MDS) are caused by deletion 17p13.3. All familial cases have been associated with a balanced reciprocal translocation in a carrier parent and unbalanced translocations in their affected offspring. We report a new case of familial MDS in whom the mother carries a pericentric inversion… (More)
We report on a 10-year-old girl with trichodysplasia, onychodysplasia, hyperpigmented ichthyoform lesions on her shins, mild enamel dysplasia, and hyperkeratosis involving the soles. This combination of ectodermal defects has only been described by Alves et al.