Phenotypic features of a boy with trisomy of 16q22???qter due to paternal Y; 16 translocation

Tsien, Fern; Morava, Éva; Talarski, Aimee; Marble, Michael

doi:10.1097/00019605-200510000-00002

Cited by 5 publications

(8 citation statements)

References 18 publications

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“…“Pure” interstitial duplications of chromosome 16q in the absence of other chromosomal imbalances are rare. We performed a literature search for all the reported cases of pure chromosome 16q22 duplications and found only one case that has a substantial cytogenetic overlap with our case [Tsien et al, 2005]. Of note, the phenotype (learning problems, prominent forehead, prominent nasal bridge, and thin upper lip) reported by Tsien et al overlaps significantly with that of individual I:3 presented here.…”

Section: Discussionsupporting

confidence: 52%

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

Banka

Fitzgibbon

Gaunt

et al. 2011

American J of Med Genetics Pt A

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The phenotype of 15q13.3 microdeletion is variable and can be non-penetrant. Recently, "second-hit hypothesis" has been proposed as a possible explanation for some variability in recurrent microdeletion syndromes. We present a family with a 1.9 Mb 15q13.3 deletion and a novel 800 kb 16q22.1 duplication. We show that the 16q22.1 duplication may be a phenotypic modifier in this family and likely results in epilepsy and learning difficulties. We state the possible genes in this region that may be important in neurological development and function.

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Section: Discussionsupporting

confidence: 52%

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

Banka

Fitzgibbon

Gaunt

et al. 2011

American J of Med Genetics Pt A

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“…We have utilized the present procedure for chromosome isolation from cells of various organisms, including various cell types obtained from human, Rhesus macaques, rats, and mice 11,[20][21][22] . The standard protocol is provided, but certain key steps and variables may need to be adjusted for these diverse types of cells.…”

Section: Discussionmentioning

confidence: 99%

Chromosome Preparation From Cultured Cells

Howe

Umrigar

Tsien

2014

JoVE

Self Cite

114

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Chromosome (cytogenetic) analysis is widely used for the detection of chromosome instability. When followed by G-banding and molecular techniques such as fluorescence in situ hybridization (FISH), this assay has the powerful ability to analyze individual cells for aberrations that involve gains or losses of portions of the genome and rearrangements involving one or more chromosomes. In humans, chromosome abnormalities occur in approximately 1 per 160 live births 1,2 , 60-80% of all miscarriages 3,4

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“…Partial trisomy 16q is also a rare disorder with a limited postnatal survival [Roberts and Duckett, 1978]. The patients described in the literature present with different breakpoints in the long arm of chromosome 16 [Balestrazzi et al, 1979; Dowman et al, 1989; Perez‐Castillo et al, 1990; Sousa et al, 2004; Tsien et al, 2005]. The great majority of the reported cases result from a parental translocation, showing the 16q duplication associated with a chromosomal monosomy.…”

Section: Introductionmentioning

confidence: 99%

Trisomy 16q21 → qter: Seven‐year follow‐up of a girl with unusually long survival

Carvalho

Bellucco

Santos³

et al. 2010

American J of Med Genetics Pt A

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The 16q21 --> qter duplication is a chromosomal abnormality rarely found in liveborn infants, with only four published cases. We report here on the 7-year follow-up of a female patient with trisomy 16q21 --> qter due to a maternal balanced translocation t(4;16)(q35.2;q21). The patient shows severe mental retardation, congenital heart malformations, nephropathy, and other congenital anomalies. The derivative chromosome was characterized by GTG banding, fluorescent in situ hybridization (FISH) with different BAC probes and the array technique, in order to map the breakpoints. The patient has a 16q21 --> qter duplication, with a 4q35 --> qter monosomy, which we assume does not contribute to the abnormal phenotype. This is the first reported case of postnatal survival to the age of 7 years, an unusually long time in this chromosomal syndrome.

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Phenotypic features of a boy with trisomy of 16q22???qter due to paternal Y; 16 translocation

Cited by 5 publications

References 18 publications

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

Chromosome Preparation From Cultured Cells

Trisomy 16q21 → qter: Seven‐year follow‐up of a girl with unusually long survival

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