New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria

Marcella Zollino; P. Mastroiacovo; Pierpaolo Mastroiacovo; Giuseppe Zampino; P. Mariotti; Paolo Mariotti; G. Neri; Giovanni Neri

doi:10.1002/ajmg.1320430168

New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria

Marcella Zollino, P. Mastroiacovo, Pierpaolo Mastroiacovo, Giuseppe Zampino, P. Mariotti, Paolo Mariotti, G. Neri, Giovanni Neri

Istituto di Genetica Umana

Risultato della ricerca: Contributo in rivista › Articolo in rivista

20 Citazioni (Scopus)

Abstract

A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.

Lingua originale	English
pagine (da-a)	452-457
Numero di pagine	6
Rivista	American Journal of Medical Genetics
Volume	43
DOI	https://doi.org/10.1002/ajmg.1320430168
Stato di pubblicazione	Pubblicato - 1992

Keywords

Adolescent
Brain
Child
Child, Preschool
Face
Female
Genetic Linkage
Genitalia, Male
Humans
Infant
Intellectual Disability
Male
Muscle Hypotonia
Pedigree
Syndrome
X Chromosome

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10.1002/ajmg.1320430168

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abstract = "A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.",

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author = "Marcella Zollino and P. Mastroiacovo and Pierpaolo Mastroiacovo and Giuseppe Zampino and P. Mariotti and Paolo Mariotti and G. Neri and Giovanni Neri",

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T1 - New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria

AU - Zollino, Marcella

AU - Mastroiacovo, P.

AU - Mastroiacovo, Pierpaolo

AU - Zampino, Giuseppe

AU - Mariotti, P.

AU - Mariotti, Paolo

AU - Neri, G.

AU - Neri, Giovanni

PY - 1992

Y1 - 1992

N2 - A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.

AB - A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.

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KW - Brain

KW - Child

KW - Child, Preschool

KW - Face

KW - Female

KW - Genetic Linkage

KW - Genitalia, Male

KW - Humans

KW - Infant

KW - Intellectual Disability

KW - Male

KW - Muscle Hypotonia

KW - Pedigree

KW - Syndrome

KW - X Chromosome

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KW - Brain

KW - Child

KW - Child, Preschool

KW - Face

KW - Female

KW - Genetic Linkage

KW - Genitalia, Male

KW - Humans

KW - Infant

KW - Intellectual Disability

KW - Male

KW - Muscle Hypotonia

KW - Pedigree

KW - Syndrome

KW - X Chromosome

UR - http://hdl.handle.net/10807/37011

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DO - 10.1002/ajmg.1320430168

M3 - Article

SN - 0148-7299

VL - 43

SP - 452

EP - 457

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

ER -

New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria

Abstract

Keywords

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