t(15;21)(q15;q22.1)pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring

Abeliovich, Dvorah; Dagan, Judith; Lerer, Israela; Silberstein, Shira; Katznelson, M B; Frydman, Moshe

doi:10.1002/(sici)1096-8628(19961202)66:1<45::aid-ajmg10>3.0.co;2-q

Cited by 6 publications

(1 citation statement)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… a References: Abeliovich et al [1996]; Aula et al [1973]; Aviv et al [1997]; Bartsch et al [1997]; Habedank and Kampe [1075]; Hagemeijer and Smith [1977]; Jenkins et al [1983]; Mattina et al [1997]; Palmer et al [1995]; Petersen et al [1990]; Pueschel et al [1980]; Rauch et al [1992]; Sanchez et al [1977]; Shabtai et al [1990]; Steensen et al [1988]; Williams et al [1990]. …”

Section: Clinical Historymentioning

confidence: 99%

Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family

et al. 2000

View full text Add to dashboard Cite

Tertiary trisomy, or double trisomy, is a rare occurrence. We present two individuals with a previously unreported tertiary trisomy for chromosomes 5p and 21q in an eight-generation pedigree. Their phenotypes are compared with other partial trisomies of either 5p or 21q from the literature. The propositus was diagnosed with trisomy 21 at 2 years of age after a karyotype study for short stature and developmental delay. His phenotype was described as atypical for Down syndrome. He presented at 9 years of age because of pervasive behavioral problems and obesity. He was brachycephalic with a flattened nasal bridge, but he lacked other characteristics of trisomy 21. Because of lack of phenotypic evidence of Down syndrome, a repeat karyotype was obtained and showed 47,XY, +der(21)t(5;21)(p15.1; q22.1), incorporating partial trisomies of both chromosomes 5 and 21. Mother had a balanced translocation, 46, XX,t(5;21)(p15.1; q22.1); 8 other relatives were examined. The translocation originated from the maternal great-grandmother, but only the propositus and his mentally retarded aunt had a similar phenotye and the derivative chromosome. Fluorescence in situ hybridization showed absence of band 21q22.2 in the derivative chromosome of the propositus and his aunt, indicating that neither had trisomy for the Down syndrome critical region. These cases represent a unique double partial trisomy of chromosome arms 5p and 21q that occurred because of 3:1 malsegregation of a reciprocal translocation. These cases further demonstrate that phenotypic discordance with cytogenetic results dictate further investigation using advanced cytogenetic hybridization.

show abstract

Section: Clinical Historymentioning

confidence: 99%

Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family

et al. 2000

View full text Add to dashboard Cite

show abstract

Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2)

Heidemann¹,

Plendl²,

Vater³

et al. 2010

Prenatal Diagnosis

View full text Add to dashboard Cite

Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature

Xefteris

Sekerli

Arampatzi

et al. 2019

Cytogenet Genome Res

View full text Add to dashboard Cite

In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while no known deleted genes are found in the 14qter region. According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-specific atypical features such as severe retardation, absence of speech, microcephaly, retrognathia, bifid uvula, ear malformations, and heart defects in addition to typical features of PWS. Our proband exhibited increased deep tendon reflexes, an atypical feature which is not reported in the reviewed literature. The severity of the phenotype is not directly associated with the size of the deletion; however, using a combination of methods, the identification of breakpoints and the deleted genes can be helpful for the prognostication in patients with atypical PWS deletions.

show abstract

t(15;21)(q15;q22.1)pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring

Cited by 6 publications

References 11 publications

Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family

Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family

Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2)

Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature

Contact Info

Product

Resources

About