The Pallister-Killian syndrome in an African individual

B F Woodman; M A Jordan; L I Moller; J D Cartwright; T J De Ravel

The Pallister-Killian syndrome in an African individual

B F Woodman, M A Jordan, L I Moller, J D Cartwright, T J De Ravel

Research output: Contribution to journal › Scientific review › peer-review

4 Citations (Scopus)

Abstract

We report for the first time an individual of Zulu origin with the Pallister-Killian syndrome. Apart from the commonly reported clinical signs, he also had frenula in all four quadrants of the mouth. A broad, short hallux was present. An unusually high level of mosaicism for the isochromosome 12p was found in the lymphocytes.

Original language	English
Pages (from-to)	33-36
Number of pages	4
Journal	Genetic Counseling (Geneva, Switzerland)
Volume	6
Issue number	1
Publication status	Published - 1995

Keywords

Abnormalities, Multiple/genetics
Africa, Southern
Aneuploidy
Chromosome Aberrations
Chromosomes, Human, Pair 12
Humans
Infant
Intellectual Disability/genetics
Isochromosomes
Male
Mosaicism
Syndrome

Cite this

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title = "The Pallister-Killian syndrome in an African individual",

abstract = "We report for the first time an individual of Zulu origin with the Pallister-Killian syndrome. Apart from the commonly reported clinical signs, he also had frenula in all four quadrants of the mouth. A broad, short hallux was present. An unusually high level of mosaicism for the isochromosome 12p was found in the lymphocytes.",

keywords = "Abnormalities, Multiple/genetics, Africa, Southern, Aneuploidy, Chromosome Aberrations, Chromosomes, Human, Pair 12, Humans, Infant, Intellectual Disability/genetics, Isochromosomes, Male, Mosaicism, Syndrome",

author = "Woodman, {B F} and Jordan, {M A} and Moller, {L I} and Cartwright, {J D} and {De Ravel}, {T J}",

year = "1995",

language = "English",

volume = "6",

pages = "33--36",

journal = "Genetic Counseling",

issn = "1015-8146",

publisher = "Editions Medecine et Hygiene",

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T1 - The Pallister-Killian syndrome in an African individual

AU - Woodman, B F

AU - Jordan, M A

AU - Moller, L I

AU - Cartwright, J D

AU - De Ravel, T J

PY - 1995

Y1 - 1995

N2 - We report for the first time an individual of Zulu origin with the Pallister-Killian syndrome. Apart from the commonly reported clinical signs, he also had frenula in all four quadrants of the mouth. A broad, short hallux was present. An unusually high level of mosaicism for the isochromosome 12p was found in the lymphocytes.

AB - We report for the first time an individual of Zulu origin with the Pallister-Killian syndrome. Apart from the commonly reported clinical signs, he also had frenula in all four quadrants of the mouth. A broad, short hallux was present. An unusually high level of mosaicism for the isochromosome 12p was found in the lymphocytes.

KW - Abnormalities, Multiple/genetics

KW - Africa, Southern

KW - Aneuploidy

KW - Chromosome Aberrations

KW - Chromosomes, Human, Pair 12

KW - Humans

KW - Infant

KW - Intellectual Disability/genetics

KW - Isochromosomes

KW - Male

KW - Mosaicism

KW - Syndrome

M3 - Scientific review

C2 - 7794559

VL - 6

SP - 33

EP - 36

JO - Genetic Counseling

JF - Genetic Counseling

SN - 1015-8146

IS - 1

ER -

The Pallister-Killian syndrome in an African individual

Abstract

Keywords

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