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Article

Adjacent‐2 disjunction of a maternal t(9;22) leading to duplication 9pter→q22 and deficiency of 22pter→q11.2

1 Sept 1990

Abstract excerpt

The proposita presented at birth with multiple congenital anomalies including craniofacial anomalies, bilateral cleft lip and palate, abnormalities of the urogenital system, talipes equinovarus, and the DiGeorge sequence. Cytogenetic investigation showed a 46,XX,-22,+der(9)t(9;22)(q22;q11.2) karyotype. The mother, maternal uncle, and maternal grandmother of the infant are carriers of a reciprocal balanced...

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Identifiers

PMID: 2240050
DOI: 10.1002/ajmg.1320370121

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Related research

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Research trail→

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Adjacent‐2 disjunction of a maternal t(9;22) leading to duplication 9pter→q22 and deficiency of 22pter→q11.2PMID 2240050Read ↗

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Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).Semantic proximity Read ↗

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Paternal origin of the de novo constitutional t(11;22)(q23;q11).Semantic proximity Read ↗

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Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype.Semantic proximity Read ↗

Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an lnfant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomySemantic proximity Read ↗

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Ring chromosome 9 with a 9p22.3-p24.3 duplication.Semantic proximity Read ↗

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