Partial trisomy 8q and partial monosomy 18p: a case report

Puvabanditsin, Surasak; Garrow, Eugene; Rabi, Firas; Titapiwatanakun, Ruetima; Kuniyoshi, Katherine M.

doi:10.1016/j.anngen.2004.07.004

Cited by 9 publications

(1 citation statement)

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“…This fetus was noted to have several sonographically detected anomalies, including a horseshoe kidney with renal hypoplasia, similar to that described in the current case. Puvabanditsin et al 2004 reported a patient with partial trisomy 8q22 → qter resulting from a maternal t(8;18). In addition to dysmorphic features and cardiac anomalies, this patient was reported to have had unilateral renal hydronephrosis.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array‐CGH

Wood

Dowey

Saul

et al. 2008

American J of Med Genetics Pt A

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Mosaic trisomy 8, also known as Warkany syndrome, has a well-characterized constellation of phenotypic findings. Partial trisomy 8, including mosaic cases, has also been reported, with outcome and counseling dependent on the chromosomal segment involved and whether accompanied by partial aneuploidy for other chromosomes. We present a case of a fetus mosaic for trisomy of the entire long arm (q) of chromosome 8 without additional chromosomal aberrations. The diagnosis was made by amniocentesis performed following an 18 week sonogram that showed multiple fetal anomalies. Mosaicism for trisomy 8q was confirmed by routine karyotyping and fluorescent in situ hybridization (FISH) analysis. The case proved useful for testing the sensitivity of array comparative genomic hybridization (array-CGH) with respect to segmental trisomy in the presence of chromosomal mosaicism. The phenotype of this fetus, which appears to be the first reported case involving mosaic trisomy 8 for the entire q arm of the chromosome, is described and compared to previously reported cases involving partial trisomy 8q.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array‐CGH

Wood

Dowey

Saul

et al. 2008

American J of Med Genetics Pt A

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Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion

Zamani

Acar

Durakbasi-Dursun

et al. 2014

American J of Med Genetics Pt A

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Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21 → qter and a deletion of p11.2 → pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported.

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