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

Research output: Contribution to journal › Article

20 Citations (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.

Original language	English
Pages (from-to)	452-457
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	43
DOIs	https://doi.org/10.1002/ajmg.1320430168
Publication status	Published - 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

Cite this

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

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",

year = "1992",

doi = "10.1002/ajmg.1320430168",

language = "English",

volume = "43",

pages = "452--457",

journal = "American Journal of Medical Genetics",

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publisher = "Wiley-Blackwell",

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TY - JOUR

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.

KW - Adolescent

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

KW - Adolescent

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

U2 - 10.1002/ajmg.1320430168

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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