De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter leads to q24::q14 leads to q21 X 1::q24 leads to qter).

Herr, Helen M.; Scott, Charles I.; Horton, Susan

doi:10.1136/jmg.20.6.473

Cited by 8 publications

(15 citation statements)

References 2 publications

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“…However, most of these had distal breakpoints and the monosomic material most likely contributed minimally to the phenotype. Only two cases involved a tandem duplication4 15 and one of these was in mosaic form 4. The other case was interstitial involving the region 15q14→q21.1, therefore overlapping only minimally with our case 15…”

supporting

confidence: 70%

Duplication of medial 15q confirmed by FISH

Browne¹,

Hatchwell²,

Protopapos³

et al. 2000

Journal of Medical Genetics

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Duplication of medial 15q confirmed by FISH EDITOR-The proband was a male infant born to a 28 year old mother and 24 year old father. The parents were healthy and non-consanguineous. There was no significant family history. The pregnancy was complicated by intrauterine growth retardation. At term, birth weight was 2300 g and bilateral talipes were noted, as were a number of dysmorphic features. These included an enlarged anterior fontanelle with widely spaced sutures, downward slanting palpebral fissures, a flat occiput, a smooth philtrum, prominent nasal bridge, fleshy nasal tip, prominent forehead, and micrognathia ( fig 1A). Deep creases were noted on both hands and feet, and the second, third, and fourth fingers of both hands were unusually long (fig 1B, C). The infant suVered from respiratory complications and failure to thrive. Further investigations showed hypothyroidism and a vascular ring (which was subsequently repaired). At 8 months old he had occasional feeding diYculties and moderate growth retardation.Short term peripheral blood lymphocyte cultures were initiated and harvested by standard protocols. G banded analysis was carried out using trypsin digestion followed by Leishman staining. All metaphases examined showed a male karyotype with an interstitial duplication of the long arm of chromosome 15 between bands q21 and q24 (fig 2). Parental karyotypes were normal. Fluorescence in situ hybridisation (FISH) was undertaken using a TRITC labelled whole chromosome 15 specific paint (wcp15) by the method provided by the supplier (Oncor Ltd, Banbury, UK). This confirmed the duplicated material to be of chromosome 15 origin (fig 3, above). Subsequently, FISH was undertaken using four band specific YAC probes, 900D08, 958H02, 812E02, and 928D07 (supplied by the YAC Screening Centre, Milan; http://www.spr.it/iger/ home.html), which map to the regions 15q21-q22, 15q23, 15q24, and 15q24-q25, respectively . Fig 3 (below) shows the FISH results using the probes 900D08 and 812E02 only. The results confirmed the cytogenetic findings; therefore, the proband's karyotype was 46,XY,dir dup (15)(q21q24) de novo.ish dup(15)(wcp15+, 900D08++,958H02++,812E02++,928D07++).A review of published reports (table 1) showed 18 families (29 subjects) with partial trisomy for the region of 15q duplicated in our case. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] The majority of cases (15/18) had breakpoints within 15q21→q22, while one had a breakpoint at 15q14, one at 15q15, and one at 15q23.Almost all cases (16/18) were the result of a parental rearrangement and, therefore, also involved partial monosomy for another chromosome. However, most of these had distal breakpoints and the monosomic material most likely contributed minimally to the phenotype. Only two cases involved a tandem duplication 4 15 and one of these was in mosaic form. 4 The other case was interstitial involving the region 15q14→q21.1, therefore overlapping only minimally with our case.

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supporting

confidence: 70%

Duplication of medial 15q confirmed by FISH

Browne¹,

Hatchwell²,

Protopapos³

et al. 2000

Journal of Medical Genetics

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“…In contrast to the above cases, our patient has duplication of the mid-distal part of the long arm of chromosome 15. Herr et al [1983] reported a profoundly re- tarded, slightly abnormally appearing male with a direct interstitial duplication of 15(q14→q21.1) with duplicated segments, which overlap with those in our case. However, the patient also had skeletal problems and hypogonadism and in general appears to be more severely affected than our case.…”

Section: Discussionsupporting

confidence: 50%

“…The second chromosome involved in the reciprocal translocation has varied; chromosomes 2, 7, 8, 11, 13, 15 (Robertsonian translocation), and 21 have been reported [Fujimoto et al, 1974;Schnatterly et al, 1984;Goldstein et al, 1987;Lacro et al, 1987;Jalal et al, 1989;Van Allen et al, 1992]. Other cases of 15q duplication have been the result of direct or inverted duplication [Yip et al, 1982;Herr et al, 1983;Chandler et al, 1997;Elcioglu et al, 1997].…”

Section: Discussionmentioning

confidence: 91%

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De novo direct duplication of 15q15?q24 in a newborn boy with mild manifestations

et al. 1999

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Duplication of distal 15q results in a recognizable clinical phenotype. We report here on a 25-day-old boy with a de novo interstitial duplication of chromosome region 15q15-q24. The manifestations in this patient are milder than those of previously described patients and include minor facial anomalies, velopharyngeal insufficiency, branchial cleft cyst, and hydronephrosis. Fluorescence in situ hybridization (FISH) using a chromosome 15 painting probe confirmed that the extra material is of chromosome 15 origin. Further analysis with the SNRPN probe demonstrated that the duplication is telomeric to the Prader-Willi/Angelman syndrome critical region. This case delineates a broader spectrum for patients with duplication 15q syndrome.

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“…Herr et al [1983] reported a 12-year-old boy with a de novo interstitial duplication of 15q14q21.1, who presented with scrotal hypoplasia and micropenis, short stature, seizure disorder, distinctive facial features, kyphosis and scoliosis, global developmental delay, and intellectual disability. Elçioglu et al [1997] described a patient with hypogonadism, dysmorphic facial features, hypotonia, developmental delay, Marfan-like features and intellectual disability, who carried a de novo interstitial inverted duplication involving bands 15q13.3q21.3.…”

Section: Discussionmentioning

confidence: 99%

Williams Syndrome and 15q Duplication: Coincidence versus Association

2016

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Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN-specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

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De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter leads to q24::q14 leads to q21 X 1::q24 leads to qter).

Abstract: SUMMARY A profoundly retarded, slightly dys-Case report morphic male was re-examined cytogenetically The patient by high resolution GTG banding and found to Caucasian r have a de novo interstitial direct duplication of of a 34-yea 1 5q. 36-year-old

Cited by 8 publications

References 2 publications

Duplication of medial 15q confirmed by FISH

Duplication of medial 15q confirmed by FISH

De novo direct duplication of 15q15?q24 in a newborn boy with mild manifestations

Williams Syndrome and 15q Duplication: Coincidence versus Association

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