Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements

Kumar, Arun; Becker, Laurie A.; Depinet, Theresa W.; Haren, JM; Kurtz, C L; Robin, Nathaniel H.; Cassidy, Suzanne B.; Wolff, Daynna J.; Schwartz, Stuart

doi:10.1007/pl00008706

Cited by 33 publications

(23 citation statements)

References 22 publications

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“…In order to determine whether these families were linked to one of the six known MCPH loci, we selected a minimum of three microsatellite markers from each of the candidate regions of these loci and genotyped all available individuals from these nine families (2,(7)(8)(9)(10)(11)(12). Microsatellite markers used for genotyping were: D8S1798, D8S277, D8S1819, and D8S1825 for the MCPH1 locus; D19S226, D19S416, D19S245, D19S425, D19S224, D19S570, D19S881, D19S400, D19S420, and D19S418 for the (18). Radiolabeled polymerase chain reaction (PCR) products were separated on 6% denaturing polyacrylamide-sequencing gels and were either subjected to Phosphor Image analysis or exposed to X-ray films.…”

Section: Chromosome Analysis and Genotypingmentioning

confidence: 99%

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations

et al. 2004

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Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other neurological deficits. It is a genetically heterogeneous disorder with six known loci: MCPH1 to MCPH6. Only the genes for MCPH1 and MCPH5 have been identified so far. We have ascertained nine consanguineous families with primary microcephaly from India. To establish linkage of these nine families to known MCPH loci, microsatellite markers were selected from the candidate regions of each of the six known MCPH loci and used to genotype the families. The results were suggestive of linkage of three families to the MCPH5 locus and one family to the MCPH2 locus. The remaining five families were not linked to any of the known loci. DNA-sequence analysis identified one known (Arg117X) and two novel (Trp1326X and Gln3060X) mutations in the three MCPH5-linked families in a homozygous state. Three novel normal population variants (i.e., c.7605G > A, c.4449G > A, and c.5961 A > G) were also detected in the ASPM gene.

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Section: Chromosome Analysis and Genotypingmentioning

confidence: 99%

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations

et al. 2004

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“…Chromosomal translocations, which appear balanced on standard cytogenetic analyses, may in some cases be associated with cryptic deletions near the breakpoints [Kumar et al, 1998]. In addition to the t(2;7) translocation visible on standard karyotype analysis, our patient may have had a separate, underlying genetic mechanism that contributed to the formation of his anomalies.…”

Section: Discussionmentioning

confidence: 89%

CHARGE association With choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11)

Martin¹,

Sheldon²,

Gorski³

2001

Am. J. Med. Genet.

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A 3-year-old boy was diagnosed with CHARGE association on the basis of bilateral choanal atresia, absence of the semicircular canals, hypoplastic cochleae, genital hypoplasia, growth and developmental delays, cranial nerve dysfunction, and facial anomalies. Ophthalmologic and cardiac evaluations were normal. He was found to have an apparently balanced t(2;7)(p14;q21.11) chromosomal translocation. Parental karyotypes were normal. Although there is evidence suggesting a genetic basis for CHARGE association, individuals with chromosomal abnormalities and CHARGE are rare. In the described patient, the presence of characteristic CHARGE features suggests that the t(2;7)(p14;q21.11) translocation breakpoints may cause a deletion or disruption of genes within the involved regions that are involved in the generation of the CHARGE association phenotype.

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“…Apparently balanced chromosomal rearrangements were reported in many Mendelian disorders and have assisted in the subsequent localization and cloning of the responsible disease genes [Tommerup, 1993]. In addition to direct disruption of a gene, cryptic microdeletions were described at the breakpoints of apparently balanced translocations and may be the causative mutational mechanism [Kumar et al, 1998]. Microduplications or position effects related to the translocations also could potentially be involved in the pathogenesis of these cases [Tommerup, 1993].…”

Section: Discussionmentioning

confidence: 99%

Candidate region for Coffin-Siris syndrome at 7q32?34

et al. 2000

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Coffin-Siris syndrome is characterized by intrauterine growth retardation, mental deficiency, coarse face, hypoplastic fifth fingers and nails, hirsutism, and initial difficulties with feeding. The etiology of this syndrome is unknown. We report on an 11-year-old girl with Coffin-Siris syndrome and a de novo, apparently balanced reciprocal translocation between chromosomes 7 and 22 [t(7;22)(q32;q11.2)]. The 7q breakpoint in our patient is very similar to the breakpoint reported in a previous case [McPherson et al., 1997: Am J Med Genet 71:430-433] with a balanced t(1;7)(q21.3;q34). Together, these patients provide evidence that the region 7q32-->34 is a candidate region for the gene responsible for Coffin-Siris syndrome.

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Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements

Cited by 33 publications

References 22 publications

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations

CHARGE association With choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11)

Candidate region for Coffin-Siris syndrome at 7q32?34

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