Trisomy 13 in a 16-year-old boy

N. M. Lindor; P. S. Karnes; S. M. Jalal; G. W. Dewald; W. J. Shaughnessy; V. V. Michels

Trisomy 13 in a 16-year-old boy

N. M. Lindor, P. S. Karnes, S. M. Jalal, G. W. Dewald, W. J. Shaughnessy, V. V. Michels

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1 Scopus citations

Abstract

The clinical phenotype associated with trisomy 13 has been recognized for over 30 years. The prognosis for long-term survival is poor due to associated malformations, with fewer than 20% of affected infants surviving beyond the first year of life. It is important in counseling the parents of an infant or fetus with trisomy 13 to be aware of the potential longevity and attainable functional capacity of these individuals. We report the clinical status of a 16-year-old boy with this syndrome and compare his clinical course with other reported long-term survivors.

Original language	English (US)
Pages (from-to)	199-202
Number of pages	4
Journal	Dysmorphology and Clinical Genetics
Volume	6
Issue number	4
State	Published - 1992

Keywords

Mental retardation
Patau syndrome
Prolonged survival
Thrombocytopenia
Trisomy 13

ASJC Scopus subject areas

Anatomy
Genetics(clinical)

Cite this

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title = "Trisomy 13 in a 16-year-old boy",

abstract = "The clinical phenotype associated with trisomy 13 has been recognized for over 30 years. The prognosis for long-term survival is poor due to associated malformations, with fewer than 20% of affected infants surviving beyond the first year of life. It is important in counseling the parents of an infant or fetus with trisomy 13 to be aware of the potential longevity and attainable functional capacity of these individuals. We report the clinical status of a 16-year-old boy with this syndrome and compare his clinical course with other reported long-term survivors.",

keywords = "Mental retardation, Patau syndrome, Prolonged survival, Thrombocytopenia, Trisomy 13",

author = "Lindor, {N. M.} and Karnes, {P. S.} and Jalal, {S. M.} and Dewald, {G. W.} and Shaughnessy, {W. J.} and Michels, {V. V.}",

year = "1992",

language = "English (US)",

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T1 - Trisomy 13 in a 16-year-old boy

AU - Lindor, N. M.

AU - Karnes, P. S.

AU - Jalal, S. M.

AU - Dewald, G. W.

AU - Shaughnessy, W. J.

AU - Michels, V. V.

PY - 1992

Y1 - 1992

N2 - The clinical phenotype associated with trisomy 13 has been recognized for over 30 years. The prognosis for long-term survival is poor due to associated malformations, with fewer than 20% of affected infants surviving beyond the first year of life. It is important in counseling the parents of an infant or fetus with trisomy 13 to be aware of the potential longevity and attainable functional capacity of these individuals. We report the clinical status of a 16-year-old boy with this syndrome and compare his clinical course with other reported long-term survivors.

AB - The clinical phenotype associated with trisomy 13 has been recognized for over 30 years. The prognosis for long-term survival is poor due to associated malformations, with fewer than 20% of affected infants surviving beyond the first year of life. It is important in counseling the parents of an infant or fetus with trisomy 13 to be aware of the potential longevity and attainable functional capacity of these individuals. We report the clinical status of a 16-year-old boy with this syndrome and compare his clinical course with other reported long-term survivors.

KW - Mental retardation

KW - Patau syndrome

KW - Prolonged survival

KW - Thrombocytopenia

KW - Trisomy 13

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M3 - Article

AN - SCOPUS:0026958985

SN - 0893-6633

VL - 6

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EP - 202

JO - Dysmorphology and Clinical Genetics

JF - Dysmorphology and Clinical Genetics

IS - 4

ER -

Trisomy 13 in a 16-year-old boy

Abstract

Keywords

ASJC Scopus subject areas

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