Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face

Eggermann, Thomas; Krause-Plonka, Ines; Wollmann, H; Zerres, Klaus; Dai, Guang; Meyer, Esther; Bartsch, Oliver

doi:10.1097/01.mcd.0000181605.55382.9a

Cited by 8 publications

(4 citation statements)

References 7 publications

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“…These cases include a father and son [Blennow et al, 1993, 1994; Anderlid et al, 2001], a mother and two children [Tan‐Sindhunata et al, 2000] and five de novo patients [Velagaleti et al, 2002; Daniel and Malafiej, 2003; Chantot‐Bastaraud et al, 2004; Lichtenbelt et al, 2005]. In our comparison, two cases with SMC(7) and having maternal UPD (uniparental disomy) [Miyoshi et al, 1999; Eggermann et al, 2006] were excluded, since they presented with the Silver–Russell syndrome (SRS) phenotype. Unfortunately, UPD has not been tested in all patients of Table I; however, the absence of SRS traits in the five patients (C, D, F, G, J), where this molecular analysis has not been performed, suggests a biparental inheritance of the two normal chromosomes 7.…”

Section: To the Editormentioning

confidence: 81%

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient

Bertini¹,

Valetto²,

Uccelli³

et al. 2008

American J of Med Genetics Pt A

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Here, we report on a patient with a de novo, mosaic, supernumerary r(7) chromosome.The patient (Fig. 1a,b), a 10-year-old girl, was born at 41 weeks of gestation after an uneventful pregnancy. She was the first child of healthy and unrelated parents, age 30 (mother) and 31 (father); her younger brother (5-year-old) was healthy. Family history was negative for congenital anomalies and/or psychomotor retardation excluding a father's cousin with language developmental delay; unfortunately, he was not available for karyotype or clinical investigation.The birth weight was 4,030 g (>97th centile), length 51 cm (75th centile) and OCF 36 cm (50th centile). No clinical symptoms were reported in the neonatal period. Her motor development was slightly delayed: she was hypotonic at birth and was sitting at age of 9 months; walking abilities were in the normal range and since the age of 12 months, she could walk without support. However, speech was severely delayed: first words were not until 3 years of age, and her language skills were delayed with poor performances on the expressive side. No hearing loss was detected.She was referred by the local pediatrician at age of 5 years because of language delay. At this time her weight was 24.8 kg (95th centile), height 114 cm (90th centile), and OCF 53 cm (97th centile). Physical examination showed a flat face, high and prominent forehead, deep-set eyes, short nose, prominent nasal root close to frontal bone, short philtrum, thick columella, thin lips, relative microstomia with downturned corners, and low set ears. Palmar creases and digits were normal but her fingers had wide nails; a partial cutaneous syndactyly was present between 2nd and 3rd toe. No signs of premature puberty were present, but she showed hirsutism on the dorsal side of her limbs and a café-au-lait macula on the abdomen. Ophthalmology evaluation showed a mild astigmatism. A soft cardiac murmur was present, but cardiac evaluation, EKG, and heart echocardiography were normal. Abdominal ultrasound revealed no visceral anomalies. A cerebral MRI showed dilatation of the ventricles and cisterna magna, whereas the results of an awake EEG were in the normal range. Hematologic and neuro-metabolic screenings were normal.Her slightly retarded psychomotor development improved with time. Recently, she demonstrated no learning difficulties at school and her cognitive development fell into normal lower limits (WISCR scale). Her performances were lowered by verbal difficulties (mostly in the phonologic, semantic and syntactic areas).Karyotype analysis of 100 metaphases showed the presence of a supernumerary marker chromosome (SMC) in about 50% of cells. The marker was shaped like a ring, C-band positive, DA-DAPI and AgNOR negative. Parental karyotypes were normal.

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Section: To the Editormentioning

confidence: 81%

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient

Bertini¹,

Valetto²,

Uccelli³

et al. 2008

American J of Med Genetics Pt A

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“…The facts that the derivative chromosome 1 carried euchromatic material and that maternal UPD 1 per se is without a phenotype,154 makes UPD unlikely to be causative for the clinical findings. A case of maternal uniparental heterodisomy 7 associated with an SMC(7) in 36% of cells exhibited Silver–Russell syndrome 137. Anderlid et al reported on a girl with mental retardation, no obvious dysmorphisms, a de novo 47,XX,r(9)(p10p12) karyotype, and maternal uniparental heterodisomy 9 139.…”

Section: Upd Of a Whole Chromosome Associated With A Marker Or A Ringmentioning

confidence: 99%

Complex and segmental uniparental disomy updated

Kotzot

2008

Journal of Medical Genetics

115

111

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“…The association between UPD and a supernumerary marker chromosome is very rare but at least 26 cases have been reported so far, 21 patients with maternal and four cases with paternal UPD [reviewed in Kotzot, 2002] [Bartels et al, 2003; Starke et al, 2003a,b; Wang et al, 2004; Liehr et al, 2005; Eggermann et al, 2006]. One case with paternal isodisomy of chromosome 6 was detected in a carrier of a supernumerary marker ring chromosome 6 which itself was of maternal origin [James et al, 1995].…”

Section: Introductionmentioning

confidence: 99%

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

Mattes

Whitehead

Liehr³

et al. 2007

American J of Med Genetics Pt A

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Uniparental disomy (UPD) describes the inheritance of two homologous chromosomes from a single parent. Disease phenotypes associated with UPD and chromosomal imprinting, rather than with mutations, include Beckwith-Wiedemann syndrome (paternal UPD11p), Angelman syndrome (paternal UPD15), Prader-Willi syndrome (maternal UPD15), and transient neonatal diabetes (paternal UPD6). Here we report on the first case of paternal uniparental isodisomy of chromosome 14 with a mosaicism for a supernumerary marker chromosome 14. The patient demonstrated a small thorax with a 'coat hanger' shape of the ribs, kyphoscoliosis, hypoplasia of the maxilla and mandible, a broad nasal bridge with anteverted nares, contractures of the wrists with ulnar deviation bilaterally, diastasis recti, and marked muscle hypotonia. Vertical skin creases under the chin and stippled epiphyses of the humeri were features not previously described in patients with paternal UPD14. This case illustrates that as with the finding of an isochromosome, a supernumerary marker chromosome can be an important clue to the presence of UPD14.

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Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face

Cited by 8 publications

References 7 publications

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient

Complex and segmental uniparental disomy updated

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

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