Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→ q32:)]

S. Schwartz; J. Meekins; S. R. Panny

doi:10.1002/ajmg.1320150119

Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→ q32:)]

S. Schwartz, J. Meekins, S. R. Panny

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Abstract

Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter → q32). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q- syndrome, in which patients usually have growth and mental retardation with few facial abnormalities.

Original language	English (US)
Pages (from-to)	141-144
Number of pages	4
Journal	American journal of medical genetics
Volume	15
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320150119
State	Published - 1983
Externally published	Yes

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320150119

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title = "Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→ q32:)]",

abstract = "Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter → q32). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q- syndrome, in which patients usually have growth and mental retardation with few facial abnormalities.",

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AU - Meekins, J.

AU - Panny, S. R.

PY - 1983

Y1 - 1983

N2 - Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter → q32). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q- syndrome, in which patients usually have growth and mental retardation with few facial abnormalities.

AB - Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter → q32). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q- syndrome, in which patients usually have growth and mental retardation with few facial abnormalities.

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Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→ q32:)]

Abstract

ASJC Scopus subject areas

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