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Comparative genomic hybridization (CGH) arrays have significantly changed the approach to identifying genetic alterations causing intellectual disability and congenital anomalies. Several studies have described the microduplication of Xp22.31, involving the STS gene. In such reports characteristic
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Ring chromosomes are uncommon cytogenetic findings but have meanwhile been reported for nearly all human chromosomes. Among the rare observations of ring chromosomes in man, the diagnosis of ring chromosome 18 represents a prominent group. We here describe on the cytogenetic analysis results
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Congenital clubfoot is a heterogeneous disorder that can result in functional disability, deformity, and pain if left untreated. Although the etiology is considered multifactorial in the majority of cases, a 17q23.1–q23.2 duplication has been reported in families with congenital clubfoot
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An infant with skeletal deformities and hypocalcemic convulsions is described. The convulsions, which were first noted in the 5th week of life, as well as the low serum calcium level were transient. The skeletal deformities consited of deformation of the terminal phalanges of the right third finger
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Trisomy 10p is a rare chromosomal syndrome, characterized by craniofacial abnormalities, malformations of organs and skeleton, and impaired psychomotor development. In most of the cases partial trisomy 10p results of a balanced translocation or inversion, the mother being carrier of the structural
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We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a
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Two patients with chromosome 22q11 deletion and cortical dysgenesis (gyral abnormalities) are reported in this study. One had unilateral clubfoot in addition to multiple features suggestive of the Di George syndrome (DGS), and the other presented with leg asymmetry and seizures, with subsequent
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BACKGROUND
Hypomelanosis of Ito was originally described as a purely cutaneous disease. Extracutaneous manifestations were described later, forming a neurocutaneous syndrome including skeletal, muscular, ocular and central nervous system symptoms.Hypomelanosis of Ito is characterized by a
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Constitutional partial trisomy 11q in man mostly occurs in combination with partial trisomy 22 due to a balanced parental translocation t(11;22). Occasionally a chromosome other than 22 is involved in the parental translocation with chromosome 11, resulting in partial monosomy for the other
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BACKGROUND
Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction,
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A 16-year-old girl with mosaicism of trisomy 18 has been followed from birth in our department. She had stigmata characteristic for trisomy 18. Chromosome analysis of lymphocytes showed trisomy 18 both at birth and at age 15, whereas analysis of fibroblasts at age 16 showed trisomy 18 with low
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High-resolution chromosome banding and in situ hybridization with combined cosmid and alphoid sequence probes were used to delineate a very small reciprocal translocation in a mother and her two children. The first child has a 46,XX,der(4)t(4;5)(p16.3;p15.3)mat and thus has a deletion of
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Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retardation, limbs
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This female Asian (Malay) baby had clinical features of Proteus syndrome. She had a large right facial lipolymphangioma with hyperpigmentation of the overlying skin. There was a smaller lymphangioma over the left side of her neck with excess nuchal folds, macrodactyly and bilateral talipes
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An 11-month-old boy was discovered to have a cleft palate, club foot, hypospadias, and myoclonic seizures. No in utero exposure to teratogens was identified. Brain MR imaging revealed a middle interhemispheric fusion variant of holoprosencephaly, diffuse polymicrogyria, and a hypoplastic brain stem;
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