An unusual chromosomal segregation in a family with a translocation between chromosomes 3 and 12

Sachdeva, S. K.; Smith, George F.; Justice, Parvin

doi:10.1136/jmg.11.3.303

Cited by 20 publications

(8 citation statements)

References 3 publications

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“…The common clinical features include early postnatal death, congenital heart defect, psychomotor retardation, hypoplastic genitalia and dysmorphic face, such as frontal bossing, temporal indentation, and hypertelorism1,2). The clinical findings associated with trisomy 3p are usually similar but not necessarily the same in all diagnosed cases1-8). The uncommon findings including holoprosencephaly, retinal change, and congenital anomalies of the kidney had rarely been reported6).…”

Section: Introductionmentioning

confidence: 99%

A case of partial trisomy 3p syndrome with rare clinical manifestations

et al. 2012

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Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

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Section: Introductionmentioning

confidence: 99%

A case of partial trisomy 3p syndrome with rare clinical manifestations

et al. 2012

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“…Duplication of parts of 3p is relatively rare and was first described by RethorC et a1 [ 19721. To date 17 cases have been described with banding studies to determine location of breaks [RethorC et al, 1972;Ballesta et al, 1974;Sachdeva et al, 1974;Say et al, 1976;Surana et al, 1976;Francke, 1978;Schinzel et al, 1978;Yunis, 1978;Parloir et al, 1979;Hersch et al, 1980;Monteiro de Pino Net0 andFerrari, 1980 Buchinger et al, 1981;Charrow et al, 19811. Whenever both parents were studied, a balanced translocation was found in one of them.…”

Section: Introduction Anomalies Syndrome Aneuploidy Syndromementioning

confidence: 99%

The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly

Martin

Steinberg

Opitz³

1983

Am. J. Med. Genet.

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We report a patient with dup(3p) syndrome with holoprosencephaly. This infant is compared with 17 others reported previously with banding studies. In 72% of cases the duplication derived from a mother with a balanced translocation; 78% of affected individuals are males. The most common anomalies are characteristic facial changes, congenital heart defects, and hypoplasia of male genitalia. Holoprosencephaly has not been reported before in the dup(3p) syndrome.

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“…A case of presumptive trisomy 3 was reported by Sinha (1968) and a few cases of partial trisomy 3 have been reported (Clarke et al, 1964;Walzer et al, 1966;Aarskog, 1969;Rethore et al, 1972;Sachdeva, Smith, and Justice, 1974). Among these cases, three cases of Rethore and one case of Sachdeva were identified as the duplicated portion of the short arm of No.…”

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confidence: 97%