1,721,000 research outputs found
A cytogenetic and fish study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples
No full textFISH studies in patients with aniridia reveals > 35% with chromosome abnormalities including five cryptic 3 PAX6 deletions
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Insertional interstitial duplication of 1(p34.3-p35.2): an association with co-arctation of the aorta and hypospadias?
No full textThe human homologue of the mouse zfh-4 gene is a candidate gene for congenital bilateral isolated ptosis
No full textA supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype
No full textThe proximal region of chromosome 15q is predisposed to a wide range of structural rearrangements. Deletions of this region, spanning approximately 4 Mb, can be paternally or maternally derived and result in Prader-Willi syndrome and Angelman syndrome, respectively.1 Additional copies of the Prader-Willi/Angelman syndrome critical region (PWACR) can occur as interstitial duplications and triplications or as supernumerary marker chromosomes (SMCs)
A recombinant chromosome 15 with duplication of the Prader-Willi/Angelman syndrome critical region arising from a familial intrachromosomal insertion, previously described as a paracentric inversion of 15q11-q15
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A de novo (1;2;3;15;18) chromosome rearrangement with six nonreciprocal translocations
No full textA de novo complex chromosome rearrangement (CCR) found in a phenotypically abnormal boy was characterized by G-bands, FISH with subtelomere probes, and M-FISH. The G-banding analysis revealed involvement of chromosomes 1, 2, 3, 15, and 18 with (at least) eight breakpoints, five nonreciprocal translocations (1q --> 2q --> 8q --> 15q --> 2p --> 1q), and a 3p insertion into the der(2); there was also a presumptive deletion of 1q41. The 5 derivatives were described as follows: der(1)(1pter --> 1q32.3?::2p21--> 2pter),der(2)(1qter --> 1q42?::2q24.2 --> 2p21::3p13 --> 3p26::15q15 --> 15qter),der(3)(3qter --> 3p13:),der(15)(15pter --> 15q15::18q11 --> 18qter),der(18)(18pter --> 18q11::2q24.2 --> 2qter). The molecular assays confirmed the segmental composition of each derivative and documented the localization of most relevant telomeres. In addition to the novelty of the 1, 2, 3, 15 and 18 combination, this CCR may also be unique in the sense that it represents a cluster of 6 nonreciprocal transpositions regardless of the occurrence (or lack thereof) of secondary unbalances. Finally, there appears to be an excess of CCRs in fetuses conceived by intracytoplasmic sperm injectio
Distribution of the D15Z1 copy number polymorphism
No full textUsing fluorescent in situ hybridization (FISH) with the probe p15 (D15Z1), we investigated the distribution of the polymorphic 15p signal which has been reported to occur on acrocentric chromosomes in addition to chromosome 15. The short arm of chromosome 15 has a characteristic signal pattern when hybridized with the FISH probe D15Z1. However, the D15Z1 signal can occasionally be seen on the short arm of other acrocentric chromosomes. We studied the distribution of the D15Z1 probe in 1657 patients consisting both of individuals with a normal karyotype and those with a variety of chromosome abnormalities involving the acrocentric chromosomes. Our results show that one in six individuals, regardless of their patient ascertainment category or karyotypic status, had one or more additional D15Z1 signals, and that there were no significant differences in the distribution of extra signals among the patient groups
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