Familial translocation involving chromosome 6, 14 and 20, identified by quinacrine fluorescence

Allderdice, P. W.; Miller, Orlando J.; Miller, Dorothy A.; Breg, W. Roy; Gendel, Edward; Zelson, Carl

doi:10.1007/bf00326943

Cited by 67 publications

(25 citation statements)

References 5 publications

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“…The rare combination of two chromosome duplications which are each associated with characteristic manifestations offers a unique opportunity to observe the overlapping phenotypic effects of two distinct chromosome abnormalities. Cuoco et al, 1982;Motigi et al, 1985;Wajntal et al, 1985;Young et al, 1982. b Allerdice et al, 1971;Fawcett et al, 1975;Fryns et al, 1974;Kovacs and Mihai, 1979;LoCurto et al, 1976;Muldal et al, 1973;Raoul et al, 1976;Reiss et al, 1972;Short et al, 1972;Simpson and Zellweger, 1977;Smith et al, 1980. …”

Section: Discussionmentioning

confidence: 97%

“…Analogous to the delineation of a trisomy 9p phenotype, reports of approximately 20 cases of duplication of the proximal long arm of chromosome 14 have led to the recognition of a characteristic partial trisomy 14q phenotype [Allerdice et al, 1971;Fawcett et al, 1975;Fryns et al, 1974;Kovacs and Mihai, 1979;Laurent et al, 1973;LoCurto et al, 1976;Muldal et al, 1973;Pena et al, 1976;Raoul et al, 1975;Reiss et al, 1972;Short et al, 1972;Simpson and Zellweger, 1977;Smith et al, 1980;Turleau et al, 1975;Yeatman and Riccardi, 1976]. Typical findings include growth and developmental retardation, microcephaly, characteristic facies and hand and foot abnormalities (Tables I and II).…”

Section: Discussionmentioning

confidence: 97%

See 1 more Smart Citation

Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes

1999

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We report on a female infant with partial trisomy 9p (pter-->p13) and partial trisomy 14q (pter-->q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic patterns of anomalies. This patient appears to be the first reported with a partial duplication of both 9p and 14q resulting in an overlapping phenotype including minor facial anomalies, cleft palate, and hand-foot anomalies. However, the facial findings were more pronounced than commonly observed in cases with only one or the other duplicated chromosome regions, resulting in a distinctive appearance.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 97%

Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes

1999

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“…These amplified der (14) der (14) der (12) Allen et al, 1996;Rauch et al, 1996;Chen et al, 1997;Tekin et al, 2001;Shashidhar Pai et al, 2003;Tsai et al, 2005, Liu et al, 2012 b Allderdice et al, 1971;Fryns et al, 1974;Cohen et al, 1975;Simpson and Zellweger, 1977;Smith et al, 1980;Angle et al, 1999;Shashidhar Pai et al, 2003. regions of the patient comprise of 237 genes on chromosome 14 and 11 genes on chromosome 12. Gene ontology studies indicate that several of these genes are involved in multiple signaling pathways (online suppl.…”

Section: Discussionmentioning

confidence: 99%

Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay

Bose

Krishnamurthy²,

Venkatesh³

et al. 2015

Cytogenet Genome Res

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This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

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“…Since Allderdice et al [1971] published their original report, numerous descriptions of partial trisomy 14 have appeared [Short et al, 1972;Pena et al, 1976;Faugeras and Barthe, 1986;Park et al, 1991]. Most are offspring of balanced translocation carriers [Faugeras and Barthe, 1986].…”

Section: Introductionmentioning

confidence: 98%

Unusual phenotype in partial trisomy 14

Lemire

Cardwell

1999

Am. J. Med. Genet.

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An 8-year-old boy with partial trisomy 14q and phenotype distinct from previously reported cases is described. The mother carries a balanced 9;14 reciprocal translocation. The patient presented with minor facial anomalies, developmental delay, hyperphagia, and obesity. Imprinting of maternal chromosome 14 or disruption of one or more genes on chromosome 9 may be responsible for our patient's manifestations.

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Familial translocation involving chromosome 6, 14 and 20, identified by quinacrine fluorescence

Cited by 67 publications

References 5 publications

Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes

Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes

Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay

Unusual phenotype in partial trisomy 14

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