Chromosomal Variability in the D1 Trisomy Syndrome

Taylor, Mary; Juberg, Richard C.; Jones, Barbara; Johnson, William A.

doi:10.1001/archpedi.1970.02100090148023

Cited by 28 publications

(10 citation statements)

References 56 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The patient ages ranged from birth to 40 years for females and birth to 38 years for males. One miscarriage [Sperber and Honoré, 1988], two elective abortions [Eubanks et al, 1998; Halder et al, 2005], and nine deaths in the first 4 months of life were reported [Patient 2; Bain et al, 1965 (two cases); Wilson and Melnyk, 1967; Taylor et al, 1970; Schinzel et al, 1974; Suga et al, 1976; Lorch et al, 1978; Hsu and Hou, 2007]. Unfortunately, little information regarding the cause of death in infancy was given in most cases.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review

Griffith

Vance

Weaver

2009

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Trisomy 13 mosaicism occurs when two cell lines, one with a normal complement of chromosomes and the other with an additional chromosome 13, are present in the same individual. We present two children with trisomy 13 mosaicism and summarize the literature in 47 published cases. Our first patient is a 4-year-old male with normal development and dysmorphic features that include right microtia, tall forehead, bulbous nose, and high arched palate. The second patient died at 1 day of life secondary to laryngeal stenosis, a previously undocumented finding in trisomy 13. His other dysmorphic features included micrognathia, cleft soft palate, and an axillary pterygium. Several published case reports of patients with trisomy 13 mosaicism have had the typical phenotype of complete trisomy 13 with death in the neonatal period, while others have had few dysmorphic features and prolonged survival. The most common malformations in all 49 cases included ear anomalies, cleft lip and palate, and various congenital heart defects. Intelligence varied from normal in six patients to significant delays and mental retardation in the remainder of cases. There is no clear correlation between the percentage of trisomic cells and the level of intellectual function. The dysmorphic features seen vary considerably from one patient to the next, often making the clinical diagnosis of trisomy 13 mosaicism difficult. In counseling families, medical professionals should state that trisomy 13 mosaicism may lead to physical abnormalities and poor intellectual outcomes, but that the condition does not do so universally with normal development occurring in some individuals.

show abstract

Section: Discussionmentioning

confidence: 99%

Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review

Griffith

Vance

Weaver

2009

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Two reports [ 1,2] indicate that the frequency of translocation in the 13 trisomy syndrome is 14-20%, while that of mosaicism is 69%. Most mosaic cases have a normal and a trisomic cell line, while a few have a normal cell line and a second one with partial trisomy 13 due to a structural abnormality [21.…”

Section: Discussionmentioning

confidence: 99%

Unusual mosaicism of De novo structural abnormalities and ocular anomalies in a male with 13 trisomy syndrome

et al. 1981

View full text Add to dashboard Cite

A body with the 13 trisomy syndrome was found to have a unique form of mosaicism in which each of the two cell lines had different structural rearrangements. The predominant cell line was partially trisomic for the distal portion of the long arm of chromosome 13, while the minor cell line was trisomic for all of the long arm of 13. The patient is also unusual because he had congenital glaucoma and was still alive at 10 years.

show abstract

“…Since then at least 126 cases with cytological confirmation have been reported (Taylor et al, 1970). The phenotypic features have been tabulated and considerable variations noted.…”

mentioning

confidence: 99%

A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.

Short¹,

Solitare²,

Breg³

1972

Journal of Medical Genetics

View full text Add to dashboard Cite

Chromosomal Variability in the D1 Trisomy Syndrome

Cited by 28 publications

References 56 publications

Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review

Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review

Unusual mosaicism of De novo structural abnormalities and ocular anomalies in a male with 13 trisomy syndrome

A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.

Contact Info

Product

Resources

About