Familial mental retardation in a family with an inherited chromosome rearrangement

Chudley, Albert E.; F, Bauder; Ray, M.; McAlpine, P.J.; Pena, Sérgio D.J.; Hamerton, J.L.

doi:10.1136/jmg.11.4.353

Cited by 72 publications

(53 citation statements)

References 27 publications

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“…Although the qll region was not triplicated, one of them had characteristic features of Edwards' syndrome. On the other hand, Chudley et al (1974) reported three family members who did not show typical features in spite of triplication of the ql 1 region. However, it seems acceptable that ql 1 is the critical region in 18 trisomy syndrome.…”

Section: Discussionmentioning

confidence: 96%

Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation

Fukuhara

Mino

et al. 1979

Jap J Human Genet

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SummaryA female infant with distal 18q trisomy, confirmed by G-and Q-banding was reported. Her karyotype was 46,XX,-6,+der(6), t(6;18) (18qter---~18q21 :: 6p24 or 25--*6pter)pat. She had the following clinical stigmata: hypertelorism, coloboma, bulbous nose with shallow nasal bridge, high arched palate, small chin, folds of redundant nuchal skin, hemangioma and limited abduction of the hip joints.

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Section: Discussionmentioning

confidence: 96%

Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation

Fukuhara

Mino

et al. 1979

Jap J Human Genet

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“…Chromosomal rearrangements involving 3 breaks, such as insertions, have been estimated to be relatively rare with 1 in 5,000 live births [Chudley et al, 1974]. An intrachromosomal insertion can be within-arm or between-arm, direct or inverted, and may undergo incomplete or complete synapsis.…”

Section: Discussionmentioning

confidence: 99%

Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

Manolakos¹,

Vetro

Papadopoulou

et al. 2013

Cytogenet Genome Res

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We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from his father having a balanced paracentric inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1.

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“…Insertions are relatively rare aberrations, occurring with an estimated frequency of less than 1 in 5,000 infants [Chudley et al, 1974]. While a few case reports of inherited interchromosomal insertions have been published [Abuelo et al, 1988;Bowen et al, 1983;Chudley et al, 1974;Edelhoff et al, 1991;Hegemann et al, 1996;Sawyer et al, 1994;Shaffer et al, 1993;Toomey et al, 1978;Van de Vooren et al, 1984], most have been de novo occurrences. Here we report a 3-generation family with an interchromosomal insertion of chromosome 10q21.2 → 22.1 material into chromosome 12.…”

Section: Introductionmentioning

confidence: 97%

Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins

et al. 1997

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An interchromosomal insertion in 3 generations of a family was ascertained through two developmentally delayed first cousins. Cytogenetic analysis using G-banding and chromosome painting showed an apparently balanced direct insertion of chromosome 10 material into chromosome 12, ins(12;10)(q15;q21.2q22.1), in the mothers and grandfather of these children. The proposita inherited only the derivative 10 chromosome, resulting in deletion of 10q21.2 --> 22.1 while her cousin inherited only the derivative 12, resulting in duplication of 10q21.2 --> 22.1. A comparison of the proposita with published deletion cases suggests a pattern of anomalies attributable to deletion of the 10q21 --> q22 region: developmental delay, hypotonia, a heart murmur, telecanthus, broad nasal root and ear abnormalities. This is the first report of a nontandem duplication of the 10q21 --> q22 region. The phenotype of the cousin with the duplication does not overlap greatly with published tandem 10q duplications. Finally, this report reaffirms the importance of obtaining family studies of patients with interstitial chromosomal abnormalities.

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Familial mental retardation in a family with an inherited chromosome rearrangement

Cited by 72 publications

References 27 publications

Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation

Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation

Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins

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