Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13;18) (q12;q11) carrier

Cotton, Catherine; Cummins, M.; Smith, Arabella

doi:10.1111/j.1399-0004.1993.tb03878.x

Cited by 4 publications

(1 citation statement)

References 8 publications

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“…Partial trisomy 13 is a distinct syndrome [Rogers, 1984; Tharapel et al, 1986]. However, trisomies involving all or part of the 13q1 region (as well as the centromere and 13p) are rare [Escobar and Yunis, 1974; Noel et al, 1976; Moedjono and Sparkes, 1979; Patil and Zellweger, 1981; Tharapel et al, 1984; Cotton et al, 1993; Nagai et al, 1994; Chen et al, 1999; Lukusa et al, 1999] and would not seem to be responsible for any clinical syndrome as recognizable as that of distal trisomy [Giraud et al, 1977; Moedjono and Sparkes, 1979]. A review of proximal trisomy 13 shows a variability in the phenotypic expression.…”

Section: Discussionmentioning

confidence: 99%

Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22

Park

Lee

et al. 2007

American J of Med Genetics Pt A

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Complex chromosomal rearrangement (CCR) is a structural abnormality of chromosomes that rarely appears in individuals with normal phenotypes. A CCR involving chromosomes 9, 13, and 22 was ascertained in a phenotypically normal woman through a neonate with multiple congenital malformations and partial trisomies of 13 and 22. We diagnosed the CCR using high-resolution chromosome analysis and three-color fluorescence in situ hybridization (three-color FISH) analysis, and ascertained a balanced CCR without cryptic imbalances using array comparative genomic hybridization (array CGH) and FISH. In the present work, we report on the case together with a literature review.

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Section: Discussionmentioning

confidence: 99%

Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22

Park

Lee

et al. 2007

American J of Med Genetics Pt A

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Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2)

et al. 1999

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A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter–q12.3) and partial trisomy 16 (p13.2–pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29‐year‐old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non‐visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low‐set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the proband's skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. Fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders. Copyright © 1999 John Wiley & Sons, Ltd.

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Recurrent adjacent‐2 segregation of a familial t(14;21)(q11.2;q11.2): Phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)

Chen

Choe

Loughman³

et al. 2004

American J of Med Genetics Pt A

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A 14-year-old boy was referred for a genetics evaluation after high-resolution chromosome analysis showed a small amount of extra material in the proximal long arm of chromosome 21. Five years prior, his karyotype analysis was interpreted as normal with a variant chromosome 21. The patient has short palpebral fissures, strabismus, flat antihelices of the ears, long thumbs with bilaterally absent interphalangeal creases, proximal bilateral 3/4 syndactyly, small testes, hypotonia, mental retardation, and speech problems. He has significant depression and behavioral problems including hyperactivity, aggression, and impulsivity. His 8-year-old brother has more severe behavioral disturbances and depression, but less significant mental retardation. A paternal aunt has mental retardation, is unusually docile, and appears similar to our patient. Chromosome analysis and fluorescence in situ hybridization (FISH) whole chromosome paint of chromosome 21 showed that the patient's father carries a "cryptic" balanced translocation, 46,XY, t(14;21)(q11.2;q11.2), as does the patient's paternal grandmother. Uniparental disomy studies using seven informative polymorphic nucleotide repeat markers from 14q and 21q confirmed biparental inheritance of the number 14 and 21 chromosomes for each brother, and indicate that they and the paternal aunt, all of whom inherited the der(14), are monosomic for proximal 21q and trisomic for proximal 14q. These karyotypes arose through an adjacent-2 segregation in the father on two occasions, and from the paternal grandmother on one occasion. This family is an example of recurrent malsegregation with translocations involving the acrocentrics.

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Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13;18) (q12;q11) carrier

Cited by 4 publications

References 8 publications

Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22

Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22

Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2)

Recurrent adjacent‐2 segregation of a familial t(14;21)(q11.2;q11.2): Phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)

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