Apparent SMA I unlinked to 5q

J. M. Cobben; H. Scheffer; M. de Visser; J. H. Begeer; W. M. Molenaar; G. van der Steege; C. H. Buys; G. J. van Ommen; L. P. ten Kate

doi:https://doi.org/10.1136/jmg.31.3.242

Apparent SMA I unlinked to 5q

J. M. Cobben, H. Scheffer, M. de Visser, J. H. Begeer, W. M. Molenaar, G. van der Steege, C. H. Buys, G. J. van Ommen, L. P. ten Kate

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Research output: Contribution to journal › Comment/Letter to the editor › Academic

11 Citations (Scopus)

Abstract

A proband with a clinical picture indistinguishable from SMA type I is described. The parents are second cousins. On DNA analysis it appeared that the proband and his healthy 2 year old sib had inherited the same haplotypes for DNA markers flanking the SMA locus on 5q. This supports non-linkage of SMA to chromosome 5q in this family. The consanguinity of the parents raises the possibility of a second locus for autosomal recessive SMA type I outside the 5q12-13 region. This may have implications for genetic counselling after prenatal diagnosis in consanguineous families. Furthermore, this case illustrates the importance of the inclusion of all healthy sibs in prenatal DNA studies for SMA type I

Original language	English
Pages (from-to)	242-244
Journal	Journal of medical genetics
Volume	31
Issue number	3
DOIs	https://doi.org/10.1136/jmg.31.3.242
Publication status	Published - 1994

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https://doi.org/10.1136/jmg.31.3.242

Cite this

@article{2524d72928c746e39646d7a5afbd55dd,

title = "Apparent SMA I unlinked to 5q",

abstract = "A proband with a clinical picture indistinguishable from SMA type I is described. The parents are second cousins. On DNA analysis it appeared that the proband and his healthy 2 year old sib had inherited the same haplotypes for DNA markers flanking the SMA locus on 5q. This supports non-linkage of SMA to chromosome 5q in this family. The consanguinity of the parents raises the possibility of a second locus for autosomal recessive SMA type I outside the 5q12-13 region. This may have implications for genetic counselling after prenatal diagnosis in consanguineous families. Furthermore, this case illustrates the importance of the inclusion of all healthy sibs in prenatal DNA studies for SMA type I",

author = "Cobben, {J. M.} and H. Scheffer and {de Visser}, M. and Begeer, {J. H.} and Molenaar, {W. M.} and {van der Steege}, G. and Buys, {C. H.} and {van Ommen}, {G. J.} and {ten Kate}, {L. P.}",

year = "1994",

doi = "https://doi.org/10.1136/jmg.31.3.242",

language = "English",

volume = "31",

pages = "242--244",

journal = "Journal of medical genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "3",

}

TY - JOUR

T1 - Apparent SMA I unlinked to 5q

AU - Cobben, J. M.

AU - Scheffer, H.

AU - de Visser, M.

AU - Begeer, J. H.

AU - Molenaar, W. M.

AU - van der Steege, G.

AU - Buys, C. H.

AU - van Ommen, G. J.

AU - ten Kate, L. P.

PY - 1994

Y1 - 1994

N2 - A proband with a clinical picture indistinguishable from SMA type I is described. The parents are second cousins. On DNA analysis it appeared that the proband and his healthy 2 year old sib had inherited the same haplotypes for DNA markers flanking the SMA locus on 5q. This supports non-linkage of SMA to chromosome 5q in this family. The consanguinity of the parents raises the possibility of a second locus for autosomal recessive SMA type I outside the 5q12-13 region. This may have implications for genetic counselling after prenatal diagnosis in consanguineous families. Furthermore, this case illustrates the importance of the inclusion of all healthy sibs in prenatal DNA studies for SMA type I

AB - A proband with a clinical picture indistinguishable from SMA type I is described. The parents are second cousins. On DNA analysis it appeared that the proband and his healthy 2 year old sib had inherited the same haplotypes for DNA markers flanking the SMA locus on 5q. This supports non-linkage of SMA to chromosome 5q in this family. The consanguinity of the parents raises the possibility of a second locus for autosomal recessive SMA type I outside the 5q12-13 region. This may have implications for genetic counselling after prenatal diagnosis in consanguineous families. Furthermore, this case illustrates the importance of the inclusion of all healthy sibs in prenatal DNA studies for SMA type I

U2 - https://doi.org/10.1136/jmg.31.3.242

DO - https://doi.org/10.1136/jmg.31.3.242

M3 - Comment/Letter to the editor

C2 - 8014975

SN - 0022-2593

VL - 31

SP - 242

EP - 244

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 3

ER -