A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome
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چکیده
منابع مشابه
An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.
An infant with peculiar facies, coloboma of both eyes, and developmental retardation was found to have d de novo interstitial deletion of the secondary constriction and some adjacent euchromatin on one of her No. 9 chromosomes, del(9)(q11q21). Since studies on duplications, variants, and the molecular composition of the secondary constriction suggest that it contributes little if any informatio...
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We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia of the corpus callosum, and hypoplasia of the cerebellar vermis. Mutation analysis of EYA1, SIX1, and SIX5, genes that underlie otofaciocervical and/or branchio-oto-renal syndrome, was negative. Pathologic diagnosis o...
متن کاملInterstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities.
Deletions of. the distal region of the long arm of chromosome 4 are well documented and characterised, whereas deletions ofthe proximal region are apparently rare. We report another child with a proximal interstitial deletion of chromosome 4, del(4)(q12q21.1), and multiple congenital anomalies, including bilateral colobomata, which has not previously been described in patients with similar dele...
متن کاملDe novo ring chromosome 6 in a child with multiple congenital anomalies.
Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child...
متن کاملMultiple congenital anomalies associated with a ring-D chromosome.
Ring chromosomes have now been observed in all except one group of the human karyotype, though, as yet, a syndrome has not been recognized which is characterized by the presence of a ring. Ring chromosomes have been observed in group A (Gordon and Cooke, 1964), in group B (Rohde and Tompkins, 1965), in group C (Lindsten and Tillinger, 1962; Turner et al., 1962; Luers, Struck, and Nevinny-Sticke...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1990
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.1320370409