Interstitial 6q deletion with a Prader-Willi-like phenotype: A new case and review of the literature

H. Jacobus Gilhuis; Conny M.A. van Ravenswaaij; Ben J.C. Hamel; Fons J.M. Gabreëls

doi:10.1053/ejpn.1999.0259

Interstitial 6q deletion with a Prader-Willi-like phenotype: A new case and review of the literature

H. Jacobus Gilhuis
, Conny M.A. van Ravenswaaij
, Ben J.C. Hamel
, Fons J.M. Gabreëls^*

^*Corresponding author for this work

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

61 Citations (Scopus)

50 Downloads (Pure)

Abstract

We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from Prader-Willi syndrome (PWS) patients. This case emphasizes the need to examine patients with suspected PWS, but who are negative for recognizable deletions of 15q11-q13 or uniparental maternal disomy of chromosome 15, for a deletion of 6q.

Original language	English
Pages (from-to)	39-43
Number of pages	5
Journal	European Journal of Paediatric Neurology
Volume	4
Issue number	1
DOIs	https://doi.org/10.1053/ejpn.1999.0259
Publication status	Published - Jan-2000
Externally published	Yes

Keywords

Childhood obesity
Chromosome 6
Mental retardation
Prader-Willi syndrome

Access to Document

10.1053/ejpn.1999.0259

Interstitial 6q deletion with a Prader-Willi-like phenotypeFinal publisher's version, 254 KBLicence: Taverne

Handle.net

Persistent link

Cite this

@article{6f0df6c7811e4afb99919896118218d0,

title = "Interstitial 6q deletion with a Prader-Willi-like phenotype: A new case and review of the literature",

abstract = "We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from Prader-Willi syndrome (PWS) patients. This case emphasizes the need to examine patients with suspected PWS, but who are negative for recognizable deletions of 15q11-q13 or uniparental maternal disomy of chromosome 15, for a deletion of 6q.",

keywords = "Childhood obesity, Chromosome 6, Mental retardation, Prader-Willi syndrome",

author = "Gilhuis, \{H. Jacobus\} and \{van Ravenswaaij\}, \{Conny M.A.\} and Hamel, \{Ben J.C.\} and Gabre{\"e}ls, \{Fons J.M.\}",

year = "2000",

month = jan,

doi = "10.1053/ejpn.1999.0259",

language = "English",

volume = "4",

pages = "39--43",

journal = "European Journal of Paediatric Neurology",

issn = "1090-3798",

publisher = "ELSEVIER SCI LTD",

number = "1",

}

TY - JOUR

T1 - Interstitial 6q deletion with a Prader-Willi-like phenotype

T2 - A new case and review of the literature

AU - Gilhuis, H. Jacobus

AU - van Ravenswaaij, Conny M.A.

AU - Hamel, Ben J.C.

AU - Gabreëls, Fons J.M.

PY - 2000/1

Y1 - 2000/1

N2 - We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from Prader-Willi syndrome (PWS) patients. This case emphasizes the need to examine patients with suspected PWS, but who are negative for recognizable deletions of 15q11-q13 or uniparental maternal disomy of chromosome 15, for a deletion of 6q.

AB - We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from Prader-Willi syndrome (PWS) patients. This case emphasizes the need to examine patients with suspected PWS, but who are negative for recognizable deletions of 15q11-q13 or uniparental maternal disomy of chromosome 15, for a deletion of 6q.

KW - Childhood obesity

KW - Chromosome 6

KW - Mental retardation

KW - Prader-Willi syndrome

U2 - 10.1053/ejpn.1999.0259

DO - 10.1053/ejpn.1999.0259

M3 - Article

C2 - 10701104

AN - SCOPUS:0033951792

SN - 1090-3798

VL - 4

SP - 39

EP - 43

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

IS - 1

ER -

Interstitial 6q deletion with a Prader-Willi-like phenotype: A new case and review of the literature

Abstract

Keywords

Access to Document

Handle.net

Fingerprint

Cite this