Partial proximal 10q trisomy: a new case associated with biliary atresia

Lysy, Philippe A.; Sibille, Catherine; Gillerot, Y.; Smets, Françoise; Sokal, Étienne

doi:10.1111/j.2007.0018-0661.02032.x

Cited by 9 publications

(12 citation statements)

References 13 publications

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“…Proximal 10q duplication ( Patient 2 ) is a well defined but rare genetic syndrome [12-19]. This represents the first case of partial proximal trisomy 10q characterized by array-CGH (Figure 2).…”

Section: Discussionmentioning

confidence: 99%

The use of array-CGH in a cohort of Greek children with developmental delay

Manolakos

Vetro

Kefalas³

et al. 2010

Mol Cytogenet

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BackgroundThe genetic diagnosis of mental retardation (MR) is difficult to establish and at present many cases remain undiagnosed and unexplained. Standard karyotyping has been used as one of the routine techniques for the last decades. The implementation of Array Comparative Genomic Hybridization (array-CGH) has enabled the analysis of copy number variants (CNVs) with high resolution. Major cohort studies attribute 11% of patients with unexplained mental retardation to clinically significant CNVs. Here we report the use of array-CGH for the first time in a Greek cohort. A total of 82 children of Greek origin with mean age 4.9 years were analysed in the present study. Patients with visible cytogenetic abnormalities ascertained by standard karyotyping as well as those with subtelomeric abnormalities determined by Multiplex Ligation-dependent Probe Amplification (MLPA) or subtelomeric FISH had been excluded.ResultsFourteen CNVs were detected in the studied patients. In nine patients (11%) the chromosomal aberrations were inherited from one of the parents. One patients showed two duplications, a 550 kb duplication in 3p14.1 inherited from the father and a ~1.1 Mb duplication in (22)(q13.1q13.2) inherited from the mother. Although both parents were phenotypically normal, it cannot be excluded that the dual duplication is causative for the patient's clinical profile including dysmorphic features and severe developmental delay. Furthermore, three de novo clinically significant CNVs were detected (3.7%). There was a ~6 Mb triplication of 18q21.1 in a girl 5 years of age with moderate MR and mild dysmorphic features and a ~4.8 Mb duplication at (10)(q11.1q11.21) in a 2 years old boy with severe MR, multiple congenital anomalies, severe central hypotonia, and ataxia. Finally, in a 3 year-old girl with microcephaly and severe hypotonia a deletion in (2)(q31.2q31.3) of about ~3.9 Mb was discovered. All CNVs were confirmed by Fluorescence in situ hybridization (FISH). For the remaining 9 patients the detected CNVs (inherited duplications or deletions of 80 kb to 800 kb in size) were probably not associated with the clinical findings.ConclusionsGenomic microarrays have within the recent years proven to be a highly useful tool in the investigation of unexplained MR. The cohorts reported so far agree on an around 11% diagnostic yield of clinically significant CNVs in patients with unexplained MR. Various publicly available databases have been created for the interpretation of identified CNVs and parents are analyzed in case a rare CNV is identified in the child. We have conducted a study of Greek patients with unexplained MR and confirmed the high diagnostic value of the previous studies. It is important that the technique becomes available also in less developed countries when the cost of consumables will be reduced.

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Section: Discussionmentioning

confidence: 99%

The use of array-CGH in a cohort of Greek children with developmental delay

Manolakos

Vetro

Kefalas³

et al. 2010

Mol Cytogenet

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“…The partial proximal trisomy 10q consists of mild to moderate developmental delay, postnatal growth retardation, microcephaly, a prominent forehead, small and deep set eyes, epicanthus, an upturned nose, a bow-shaped mouth, micrognathia, thick and flat helices of the ears and long, slender limbs (1–8). …”

Section: Discussionmentioning

confidence: 99%

“…This is the first case of partial proximal trisomy 10q characterized by array-CGH. To the best of our knowledge, only eight cases have previously reported duplication at 10q11→10q22 (1–8). The clinical characteristics of the eight previously published cases with duplication at 10q11→q22 and the present case are outlined in Table I.…”

Section: Discussionmentioning

confidence: 99%

“…In this study, the case of a boy with phenotypic abnormalities and duplication of the chromosomal region, 10q11.21→q11.22, characterized by the array-comparative genomic hybridization (CGH) technique, is reported. The phenotypic findings were compared with those in eight additional published cases with proximal partial duplication of the long arm of chromosome 10q (1–8). The partial proximal trisomy 10q consists of mild to moderate developmental delay, postnatal growth retardation, microcephaly, prominent forehead, small and deep set eyes, epicanthus, upturned nose, bow-shaped mouth, micrognathia, thick and flat helices of the ears and long, slender limbs (8).…”

Section: Introductionmentioning

confidence: 99%

“…The phenotypic findings were compared with those in eight additional published cases with proximal partial duplication of the long arm of chromosome 10q (1–8). The partial proximal trisomy 10q consists of mild to moderate developmental delay, postnatal growth retardation, microcephaly, prominent forehead, small and deep set eyes, epicanthus, upturned nose, bow-shaped mouth, micrognathia, thick and flat helices of the ears and long, slender limbs (8). The present study concerns an 8-year-old boy with severe central hypotonia in whom array-CGH identified a de novo cryptic duplication of the proximal 10q.…”

Section: Introductionmentioning

confidence: 99%

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Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

Manolakos¹,

Vetro²,

Garas³

et al. 2014

Experimental and Therapeutic Medicine

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Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay and mild dysmorphic features), due to duplication of chromosome region, 10q11.21→q11.22, which was characterized by the array-comparative genomic hybridization (CGH) technique. The phenotypic findings were compared with those in eight additional similar published cases. Major similarities have emerged, suggesting a likely minimal critical region. However, only detailed characterization of additional cases may provide firm conclusions.

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Anatomie, Funktion und tumorartige Läsionen

Schlitter

Remmele²

2020

Pathologie

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Partial proximal 10q trisomy: a new case associated with biliary atresia

Cited by 9 publications

References 13 publications

The use of array-CGH in a cohort of Greek children with developmental delay

The use of array-CGH in a cohort of Greek children with developmental delay

Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature

Anatomie, Funktion und tumorartige Läsionen

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