Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome

B. Dallapiccola, P. Mandich, E. Bellone, A. Selicorni, V. Mokin, F. Ajmar, G. Novelli

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

We report on molecular studies in 7 patients with Wolf-Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal origin of the de novo 4p chromosome deletion. The overall results of molecular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differences between the mechanisms of sperm and egg production.

Original languageEnglish
Pages (from-to)921-924
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume47
Issue number6
DOIs
Publication statusPublished - 1993

Fingerprint

Wolf-Hirschhorn Syndrome
Haplotypes
Meiosis
Ovum
Spermatozoa
Mothers
Chromosome 4 short arm deletion

Keywords

  • 4p deletion
  • chromosome 4 probes
  • imprinting
  • meiosis
  • Wolf-Hirschhorn syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Dallapiccola, B., Mandich, P., Bellone, E., Selicorni, A., Mokin, V., Ajmar, F., & Novelli, G. (1993). Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. American Journal of Medical Genetics, 47(6), 921-924. https://doi.org/10.1002/ajmg.1320470622

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. / Dallapiccola, B.; Mandich, P.; Bellone, E.; Selicorni, A.; Mokin, V.; Ajmar, F.; Novelli, G.

In: American Journal of Medical Genetics, Vol. 47, No. 6, 1993, p. 921-924.

Research output: Contribution to journalArticle

Dallapiccola, B, Mandich, P, Bellone, E, Selicorni, A, Mokin, V, Ajmar, F & Novelli, G 1993, 'Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome', American Journal of Medical Genetics, vol. 47, no. 6, pp. 921-924. https://doi.org/10.1002/ajmg.1320470622
Dallapiccola, B. ; Mandich, P. ; Bellone, E. ; Selicorni, A. ; Mokin, V. ; Ajmar, F. ; Novelli, G. / Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. In: American Journal of Medical Genetics. 1993 ; Vol. 47, No. 6. pp. 921-924.
@article{6c85c8fe857b4ee1a0f05ce75eeec69d,
title = "Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome",
abstract = "We report on molecular studies in 7 patients with Wolf-Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal origin of the de novo 4p chromosome deletion. The overall results of molecular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differences between the mechanisms of sperm and egg production.",
keywords = "4p deletion, chromosome 4 probes, imprinting, meiosis, Wolf-Hirschhorn syndrome",
author = "B. Dallapiccola and P. Mandich and E. Bellone and A. Selicorni and V. Mokin and F. Ajmar and G. Novelli",
year = "1993",
doi = "10.1002/ajmg.1320470622",
language = "English",
volume = "47",
pages = "921--924",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "6",

}

TY - JOUR

T1 - Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome

AU - Dallapiccola, B.

AU - Mandich, P.

AU - Bellone, E.

AU - Selicorni, A.

AU - Mokin, V.

AU - Ajmar, F.

AU - Novelli, G.

PY - 1993

Y1 - 1993

N2 - We report on molecular studies in 7 patients with Wolf-Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal origin of the de novo 4p chromosome deletion. The overall results of molecular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differences between the mechanisms of sperm and egg production.

AB - We report on molecular studies in 7 patients with Wolf-Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal origin of the de novo 4p chromosome deletion. The overall results of molecular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differences between the mechanisms of sperm and egg production.

KW - 4p deletion

KW - chromosome 4 probes

KW - imprinting

KW - meiosis

KW - Wolf-Hirschhorn syndrome

UR - http://www.scopus.com/inward/record.url?scp=0027432982&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027432982&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320470622

DO - 10.1002/ajmg.1320470622

M3 - Article

VL - 47

SP - 921

EP - 924

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 6

ER -