Further contribution to the description of phenotypes associated with partial 4q duplication

Marcella Zollino; Giuseppe Zampino; Giovanni Neri

doi:10.1002/ajmg.1320570116

Further contribution to the description of phenotypes associated with partial 4q duplication

Marcella Zollino, Giuseppe Zampino, Giovanni Neri

Risultato della ricerca: Contributo in rivista › Articolo in rivista

38 Citazioni (Scopus)

Abstract

We report on a 15-year-old girl with a previously undescribed de novo duplication of segment 4q13.1-->q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial 4q trisomy led us to identify a region comprising bands 4q22-q23, which may be involved in the development of the acrorenal field.

Lingua originale	English
pagine (da-a)	69-73
Numero di pagine	5
Rivista	American Journal of Medical Genetics
Volume	57
DOI	https://doi.org/10.1002/ajmg.1320570116
Stato di pubblicazione	Pubblicato - 1995

Keywords

Abnormalities, Multiple
Adolescent
Chromosome Mapping
Chromosomes, Human, Pair 4
Dermatoglyphics
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Phenotype
Trisomy

Accesso al documento

10.1002/ajmg.1320570116

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abstract = "We report on a 15-year-old girl with a previously undescribed de novo duplication of segment 4q13.1-->q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial 4q trisomy led us to identify a region comprising bands 4q22-q23, which may be involved in the development of the acrorenal field.",

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T1 - Further contribution to the description of phenotypes associated with partial 4q duplication

AU - Zollino, Marcella

AU - Zampino, Giuseppe

AU - Neri, Giovanni

PY - 1995

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N2 - We report on a 15-year-old girl with a previously undescribed de novo duplication of segment 4q13.1-->q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial 4q trisomy led us to identify a region comprising bands 4q22-q23, which may be involved in the development of the acrorenal field.

AB - We report on a 15-year-old girl with a previously undescribed de novo duplication of segment 4q13.1-->q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial 4q trisomy led us to identify a region comprising bands 4q22-q23, which may be involved in the development of the acrorenal field.

KW - Abnormalities, Multiple

KW - Adolescent

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 4

KW - Dermatoglyphics

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KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Karyotyping

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KW - Abnormalities, Multiple

KW - Adolescent

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 4

KW - Dermatoglyphics

KW - Female

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Karyotyping

KW - Male

KW - Phenotype

KW - Trisomy

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DO - 10.1002/ajmg.1320570116

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JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 0148-7299

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