De novo 1q32q44 duplication and distal 1q trisomy syndrome

Nowaczyk, Małgorzata J.M.; Bayani, Jane; Freeman, Viola; Watts, John; Squire, Jeremy A.; Xu, Jie

doi:10.1002/ajmg.a.20028

Cited by 33 publications

(40 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Bartsch et al, 2001;Nowaczyk et al, 2003), duplications within the region 1p36.2 → 1p31 are very rarely described (Elejalde et al, 1984;Garcia-Heras et al, 1999;Warden et al, 2001;Cogulu et al, 2003).…”

Section: Discussionmentioning

confidence: 99%

“…three cases with duplications (Elejalde et al, 1984;GarciaHeras et al, 1999;Warden et al, 2001) and one with an inversion (Cogulu et al, 2003). For the distal long arm of chromosome 1 (bands q32 → q44), excluding interchromosomal translocations, only duplications have been described to date (for review see Bartsch et al, 2001 andNowaczyk et al, 2003).…”

confidence: 99%

See 1 more Smart Citation

Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

Polityko

Starke²,

Rumyantseva³

et al. 2005

Cytogenet Genome Res

View full text Add to dashboard Cite

In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. Fluorescence in situ hybridization (FISH) analysis using high resolution multicolor banding (MCB) characterized the aberrations of the abnormal chromosomes 1 as a (sub)terminal duplication and inverted duplications, respectively. Although three different chromosomal regions i.e. 1p36.1, 1p36.2→1p31.3 and 1q41→1q44 were involved, all three patients had similar patterns of dysmorphic findings. These cases demonstrate the power of MCB in the characterization of small interstitial chromosomal aberrations and resulted in the characterization of three previously unreported congenital chromosome 1 rearrangements.

show abstract

Section: Discussionmentioning

confidence: 99%

Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

Polityko

Starke²,

Rumyantseva³

et al. 2005

Cytogenet Genome Res

View full text Add to dashboard Cite

show abstract

“…Review of the literature reveals only five cases of pure trisomy 1q32 ! qter [Flatz and Fonatsch, 1979;Fryns et al, 1980;Clark et al, 1994;Duba et al, 1997;Nowaczyk et al, 2003]. The patients with pure trisomy for 1q32 !…”

Section: Discussionmentioning

confidence: 99%

“…The patients with pure trisomy for 1q32 ! qter show a fairly consistent pattern of congenital anomalies: severe pre-and postnatal growth retardation, macrocephaly, wide sutures and fontanelles, prominent forehead, triangular faces, broad and flat nasal bridge, midface hypoplasia, and visceral malformations, including urogenital and cardiac anomalies [Bartsch et al, 2001;Kimya et al, 2002;Nowaczyk et al, 2003]. There is, however, substantial phenotypic variability observed in patients with trisomy 1q and accompanying monosomy for another chromosomal region [Rasmussen et al, 1990;Johnson, 1991].…”

Section: Discussionmentioning

confidence: 99%

Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]

Yatsenko

Sahoo

Rosenkranz

et al. 2004

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report a case of an X;1 translocation in a 9-month-old female infant with mild dysmorphic features and developmental delay. High-resolution chromosome analysis revealed a de novo, unbalanced translocation between chromosomes X and 1 [46,X,der(X),t(X;1)(q28;q32.1)]. Breakpoints on the derivative X and the size of the translocated segment have been defined by fluorescence in situ hybridization (FISH) with Xq and 1q specific probes. The rearrangement in this patient results in monosomy for Xq28-qter and trisomy for 1q32.1-qter. Replication studies demonstrated late replication of the derivative X in 80% of the observed cells, with the exception of 20% of the cells where X inactivation failed to spread into the translocated 1q segment. Patients with pure trisomy for the distal segment of 1q present a considerably more severe phenotype compared to that seen in our patient, including facial dysmorphisms, urogenital and cardiac anomalies. We suggest that the absence of many of the characteristic features for trisomy 1q in our patient, may reflect a mosaic pattern of inactivation of the translocated autosomal segment on the derivative X chromosome.

show abstract

“…From the three cases with triplication of the LBR-gene at 1q42.1, one patient was already published. 33 The two new patients are from Germany and from the Sultanate of Oman, respectively ( Table 1). Both came to clinical attention because of severe mental and motoric retardation.…”

Section: Subjectsmentioning

confidence: 99%