20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ

Narrowing of the 9p duplication critical region to 6 Mb

Maria Clara Bonaglia, Roberto Giorda, Romeo Carrozzo, Maria Elena Roncoroni, Rita Grasso, Renato Borgatti, Orsetta Zuffardi

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

We studied the case of a girl with a partial 9p duplication, dup(9)(p22.1 → p13.1). Molecular cytogenetics studies defined the chromosome 9 rearrangement as a direct duplication of 20 Mb from D9S1213 to D9S52. Microsatellite analysis demonstrated the presence of a double dosage of the paternal alleles and demonstrated that the duplication occurred between sister chromatids. The patient's phenotype was almost normal, with a few minor anomalies (dolichocephaly, crowded teeth, high arched palate) and normal IQ. The breakpoint's location in this patient and previously reported cases suggest that the critical region for the 9p duplication syndrome lies within a 6-Mb portion of chromosome 9p22 between markers D9S267 and D9S1213.

Original languageEnglish
Pages (from-to)154-159
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume112
Issue number2
DOIs
Publication statusPublished - Oct 1 2002

Fingerprint

Chromosomes, Human, Pair 9
Chromatids
Palate
Cytogenetics
Microsatellite Repeats
Siblings
Tooth
Chromosomes
Alleles
Phenotype
Trisomy Chromosome 20
Trisomy Chromosome 9

Keywords

  • 9p direct duplication
  • 9p duplication critical region
  • Chromosome syndrome
  • Homologous recombination

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ : Narrowing of the 9p duplication critical region to 6 Mb. / Bonaglia, Maria Clara; Giorda, Roberto; Carrozzo, Romeo; Roncoroni, Maria Elena; Grasso, Rita; Borgatti, Renato; Zuffardi, Orsetta.

In: American Journal of Medical Genetics, Vol. 112, No. 2, 01.10.2002, p. 154-159.

Research output: Contribution to journalArticle

@article{ccf8ea9f19574a85b3d0e7c26054426f,
title = "20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb",
abstract = "We studied the case of a girl with a partial 9p duplication, dup(9)(p22.1 → p13.1). Molecular cytogenetics studies defined the chromosome 9 rearrangement as a direct duplication of 20 Mb from D9S1213 to D9S52. Microsatellite analysis demonstrated the presence of a double dosage of the paternal alleles and demonstrated that the duplication occurred between sister chromatids. The patient's phenotype was almost normal, with a few minor anomalies (dolichocephaly, crowded teeth, high arched palate) and normal IQ. The breakpoint's location in this patient and previously reported cases suggest that the critical region for the 9p duplication syndrome lies within a 6-Mb portion of chromosome 9p22 between markers D9S267 and D9S1213.",
keywords = "9p direct duplication, 9p duplication critical region, Chromosome syndrome, Homologous recombination",
author = "Bonaglia, {Maria Clara} and Roberto Giorda and Romeo Carrozzo and Roncoroni, {Maria Elena} and Rita Grasso and Renato Borgatti and Orsetta Zuffardi",
year = "2002",
month = "10",
day = "1",
doi = "10.1002/ajmg.10699",
language = "English",
volume = "112",
pages = "154--159",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "2",

}

TY - JOUR

T1 - 20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ

T2 - Narrowing of the 9p duplication critical region to 6 Mb

AU - Bonaglia, Maria Clara

AU - Giorda, Roberto

AU - Carrozzo, Romeo

AU - Roncoroni, Maria Elena

AU - Grasso, Rita

AU - Borgatti, Renato

AU - Zuffardi, Orsetta

PY - 2002/10/1

Y1 - 2002/10/1

N2 - We studied the case of a girl with a partial 9p duplication, dup(9)(p22.1 → p13.1). Molecular cytogenetics studies defined the chromosome 9 rearrangement as a direct duplication of 20 Mb from D9S1213 to D9S52. Microsatellite analysis demonstrated the presence of a double dosage of the paternal alleles and demonstrated that the duplication occurred between sister chromatids. The patient's phenotype was almost normal, with a few minor anomalies (dolichocephaly, crowded teeth, high arched palate) and normal IQ. The breakpoint's location in this patient and previously reported cases suggest that the critical region for the 9p duplication syndrome lies within a 6-Mb portion of chromosome 9p22 between markers D9S267 and D9S1213.

AB - We studied the case of a girl with a partial 9p duplication, dup(9)(p22.1 → p13.1). Molecular cytogenetics studies defined the chromosome 9 rearrangement as a direct duplication of 20 Mb from D9S1213 to D9S52. Microsatellite analysis demonstrated the presence of a double dosage of the paternal alleles and demonstrated that the duplication occurred between sister chromatids. The patient's phenotype was almost normal, with a few minor anomalies (dolichocephaly, crowded teeth, high arched palate) and normal IQ. The breakpoint's location in this patient and previously reported cases suggest that the critical region for the 9p duplication syndrome lies within a 6-Mb portion of chromosome 9p22 between markers D9S267 and D9S1213.

KW - 9p direct duplication

KW - 9p duplication critical region

KW - Chromosome syndrome

KW - Homologous recombination

UR - http://www.scopus.com/inward/record.url?scp=0036808211&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036808211&partnerID=8YFLogxK

U2 - 10.1002/ajmg.10699

DO - 10.1002/ajmg.10699

M3 - Article

VL - 112

SP - 154

EP - 159

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 2

ER -