Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome

Dufke, Andreas; Seidel, J.C.; Schöning, M.; Döbler-Neumann, Marion; Kelbova, Christina; Liehr, Thomas; Beensen, Volkmar; Backsch, Claudia; Klein-Vogler, U.; Enders, Herbert

doi:10.1159/000056823

Cited by 15 publications

(2 citation statements)

References 17 publications

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“…Five markers showed a normal situation; the remaining six loci resulted in a noninformative pattern. To exclude a microdeletion as the basis of the iUPD, FISH with locus‐specific probes for the Wolf‐Hirschhorn‐syndrome region (see Dufke et al [2000]) was performed. However, both inconspicuous chromosomes 4 presented with the expected one signal on each chromatid for the probes cl108f12 and cl196a2 (Fig.…”

Section: Resultsmentioning

confidence: 99%

First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15‐16

Starke

Mitulla²,

Nietzel

et al. 2002

American J of Med Genetics Pt A

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We report on a rare additional numerical chromosomal aberration in a child with Down syndrome due to free trisomy 21. The karyotype showed 48,XY,+21,+mar after GTG banding, with the marker present in 80% of cells. The supernumerary marker chromosome (SMC) was as small as approximately one‐third of 18p, and with the recently developed centromere‐specific multi‐color fluorescence in situ hybridization (cenM‐FISH) technique, it was shown that the SMC was a derivative chromosome 4. The SMC was not specifically stained by arm‐specific probes for chromosome 4; thus, it has been described as der(4)(:p11 → q11:). Microsatellite analysis resulted in a partial maternal uniparental isodisomy (UPD) for chromosome 4p15–16 and a maternal origin for two chromosomes 21. Until now only two similar cases have been described in the literature, but without clarifying the origin of the SMC and without looking for an additional UPD. This is the only reported case of a UPD 4p in a liveborn child. © 2002 Wiley‐Liss, Inc.

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Section: Resultsmentioning

confidence: 99%

First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15‐16

Starke

Mitulla²,

Nietzel

et al. 2002

American J of Med Genetics Pt A

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show abstract

“…In patients with congenital abnormalities, FISH techniques have been successfully used to detect submicroscopic deletions [8,32] and to characterise the deleted genes [38,50,57], to clarify the origin of extra marker chromosomes [9,11,52] especially using centromerespecific multicolour FISH [25,31], and to clarify the origin of ring chromosomes [13,27,46,47]. Additionally, FISH techniques allowed the identification of chromosomal duplications [29,40,55] as well as partial trisomy or tetrasomy [9,15,57].…”

Section: Discussionmentioning

confidence: 99%