Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth

Fuad Fares; Miriam David; Aaron Lerner; Roni Diukman; Israela Lerer; Dvorah Abeliovich; Joseph Rivlin

doi:10.1002/ajmg.a.31380

Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth

Fuad Fares, Miriam David, Aaron Lerner, Roni Diukman, Israela Lerer, Dvorah Abeliovich, Joseph Rivlin

Research output: Contribution to journal › Article › peer-review

Abstract

We have diagnosed a boy with cystic fibrosis (CF) due to paternal UPD presenting with overweight and developmental delay, not typical features to CF patients. Two previously reported patients with paternal UPD(7) did not present overgrowth. The discrepancy between the phenotype of this boy and the other two patients raises the question of imprinted genes or homozygotization of a disease-causing gene in paternal UPD7.

Original language	English
Pages (from-to)	1785-1788
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	140
Issue number	16
DOIs	https://doi.org/10.1002/ajmg.a.31380
State	Published - 15 Aug 2006
Externally published	Yes

Keywords

Cystic fibrosis
Genomic imprinting
Overgrowth
Paternal UPD7

ASJC Scopus subject areas

Genetics
Genetics(clinical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1002/ajmg.a.31380

Cite this

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abstract = "We have diagnosed a boy with cystic fibrosis (CF) due to paternal UPD presenting with overweight and developmental delay, not typical features to CF patients. Two previously reported patients with paternal UPD(7) did not present overgrowth. The discrepancy between the phenotype of this boy and the other two patients raises the question of imprinted genes or homozygotization of a disease-causing gene in paternal UPD7.",

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AU - Fares, Fuad

AU - David, Miriam

AU - Lerner, Aaron

AU - Diukman, Roni

AU - Lerer, Israela

AU - Abeliovich, Dvorah

AU - Rivlin, Joseph

PY - 2006/8/15

Y1 - 2006/8/15

N2 - We have diagnosed a boy with cystic fibrosis (CF) due to paternal UPD presenting with overweight and developmental delay, not typical features to CF patients. Two previously reported patients with paternal UPD(7) did not present overgrowth. The discrepancy between the phenotype of this boy and the other two patients raises the question of imprinted genes or homozygotization of a disease-causing gene in paternal UPD7.

AB - We have diagnosed a boy with cystic fibrosis (CF) due to paternal UPD presenting with overweight and developmental delay, not typical features to CF patients. Two previously reported patients with paternal UPD(7) did not present overgrowth. The discrepancy between the phenotype of this boy and the other two patients raises the question of imprinted genes or homozygotization of a disease-causing gene in paternal UPD7.

KW - Cystic fibrosis

KW - Genomic imprinting

KW - Overgrowth

KW - Paternal UPD7

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IS - 16

ER -

Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

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