Phenotype-karyotype Correlation in Patients Trisomic for Various Segments of Chromosome 13

Overview

Journal J Med Genet

Specialty Genetics

Date 1986 Aug 1

PMID 3746829

Citations 14

Authors

S A Tharapel

R C Lewandowski

A T Tharapel

R S Wilroy Jr

Affiliations

Soon will be listed here.

Abstract

Analysis of clinical and cytogenetic findings taken from 62 published cases of partial trisomies of chromosome 13 showed that 15 had partial trisomy for the proximal long arm and 47 had trisomy for the distal long arm. Persistence of fetal haemoglobin (Hb F), increased projections of polymorphonuclear leucocytes (PMN), depressed nasal bridge, cleft lip/palate, and clinodactyly were more frequent in patients with proximal trisomy 13. In the distal trisomy group, the common features included haemangioma, bushy eyebrows, long curled eyelashes, prominent nasal bridge, long philtrum, thin upper lip, highly arched palate, and hexadactyly. In addition, several other features were common to both the groups, often showing inconsistency even when the same segment was in trisomy. The influence of the second aneusomy as the most likely cause for such inconsistent and overlapping phenotypes is discussed in view of the fact that 42 of 62 cases were derived from a balanced translocation carrier parent.

Citing Articles

Case Report: Prenatal Identification of a Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl.

Dharmadhikari A, Pereira E, Andrews C, Macera M, Harkavy N, Wapner R Front Genet. 2022; 13:906077.

PMID: 35928455 PMC: 9343796. DOI: 10.3389/fgene.2022.906077.

Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.

Martin-de Saro M, Compean Z, Aguilar K, Gonzalez-Huerta L, Plaza-Benhumea L, Messina-Baas O Mol Syndromol. 2021; 12(5):305-311.

PMID: 34602958 PMC: 8436647. DOI: 10.1159/000516058.

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.

Moran-Barroso V, Cervantes A, Rivera-Vega M, Del Castillo-Moreno A, Moreno-Chacon A, Mejia-Cauich E Mol Genet Genomic Med. 2021; 9(9):e1762.

PMID: 34288579 PMC: 8457692. DOI: 10.1002/mgg3.1762.

Oral and craniofacial clinical signs associated to genetic conditions in human identification part I: a review.

Ayoub F, Aoun N, El Husseini H, Jassar H, Sayah F, Salameh Z J Int Oral Health. 2015; 7(5):81-6.

PMID: 26028912 PMC: 4441246.

A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.

Atack E, Fairtlough H, Smith K, Balasubramanian M Mol Syndromol. 2014; 5(5):245-50.

PMID: 25337073 PMC: 4188164. DOI: 10.1159/000358538.

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