Malformations in a child with dup (7 pter‐p15.1) and del (7 q36‐qter) as a result of familial pericentric inversion

Jeanette C. Ramer; Philip N. Mowrey; Roger L. Ladda

doi:10.1111/j.1399-0004.1991.tb03056.x

Malformations in a child with dup (7 pter‐p15.1) and del (7 q36‐qter) as a result of familial pericentric inversion

Jeanette C. Ramer, Philip N. Mowrey, Roger L. Ladda

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Abstract

We describe a child with multiple anomalies and severe retardation with dup 7pter‐p15.1 and del 7q36‐qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosome 7.

Original language	English (US)
Pages (from-to)	442-450
Number of pages	9
Journal	Clinical Genetics
Volume	39
Issue number	6
DOIs	https://doi.org/10.1111/j.1399-0004.1991.tb03056.x
State	Published - Jun 1991

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1991.tb03056.x

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abstract = "We describe a child with multiple anomalies and severe retardation with dup 7pter‐p15.1 and del 7q36‐qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosome 7.",

author = "Ramer, {Jeanette C.} and Mowrey, {Philip N.} and Ladda, {Roger L.}",

year = "1991",

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AU - Mowrey, Philip N.

AU - Ladda, Roger L.

PY - 1991/6

Y1 - 1991/6

N2 - We describe a child with multiple anomalies and severe retardation with dup 7pter‐p15.1 and del 7q36‐qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosome 7.

AB - We describe a child with multiple anomalies and severe retardation with dup 7pter‐p15.1 and del 7q36‐qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosome 7.

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ER -

Malformations in a child with dup (7 pter‐p15.1) and del (7 q36‐qter) as a result of familial pericentric inversion

Abstract

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