Five familial cases with a trisomy 16p syndrome due to translocation

Leschot, N. J.; Nef, J. J. de; Geraedts, J. P. M.; Becker-Bloemkolk, M. J.; Talma, A.; Bijlsma, J. B.; Verjaal, M.

doi:10.1111/j.1399-0004.1979.tb00991.x

Cited by 35 publications

(17 citation statements)

References 3 publications

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“…Patients carrying large 16p duplications detected using standard techniques can manifest also tetralogy of Fallot or ventricular septal defect. 5,13 A baseline cardiological evaluation is recommended at diagnosis, and periodic monitoring is warranted for the potential onset of pulmonary hypertension. Early onset of pulmonary vascular disease unresponsive to oxygen, as illustrated in our case 1, has been reported previously in an infant with an inverted duplication of 16p11.2 -p13.3.…”

Section: Discussionmentioning

confidence: 99%

16p subtelomeric duplication: a clinically recognizable syndrome

Digilio¹,

Bernardini²,

Capalbo³

et al. 2009

Eur J Hum Genet

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We report on two patients with duplication of the subterminal region of chromosome 16p (dup16p) recognized by fluorescent in situ hybridization (FISH) telomere analysis, presenting with closely overlapping facial features and neurological impairment. Distinct facial anomalies included high forehead, sparse eyebrows, blepharophimosis, short nose, everted upper lip, high-arched palate, wide-spaced teeth, and cupped anteverted ears. Susceptibility to vascular anomalies, in particular pulmonary hypertension and portal cavernoma, was found in one patient. Subtelomeric analysis by FISH demonstrated a de novo duplication of the subtelomeric region of chromosome 16p and a deletion of the subtelomeric region of chromosome 4q in case 1, and duplication of the subtelomeric region of 16p and a deletion of the subtelomeric region of 21q, resulting from malsegregation of a balanced maternal traslocation t(16pter;21qter) in case 2. The extension of duplicated regions measured by array-comparative genome hybridization was about 12 Mb on 16p13.3p13.13 in case 1, and about 8.5 Mb on 16p13.3p13.2 in case 2. In conclusion, we reported a clinically recognizable disorder in two patients with dup16p. Pulmonary hypertension, vascular ring, and manifestations of vascular disruption, as terminal hypoplasia of hands and aplasia cutis, have been previously described in association with dup16p. Thus, susceptibility to pulmonary vascular disease and other vascular anomalies can be a feature of dup16p, suggesting that this subtelomeric region in some respect could be related to vascular anomalies.

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Section: Discussionmentioning

confidence: 99%

16p subtelomeric duplication: a clinically recognizable syndrome

Digilio¹,

Bernardini²,

Capalbo³

et al. 2009

Eur J Hum Genet

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“…However, comparison between the cases is difficult since most of them involve different breakpoints and additional chromosome imbalances are often found resulting from the various rearrangements. As mentioned in the ''Introduction'' and above in the ''Discussion,'' only 9 of the 41 published cases have a complete trisomy 16p [Magnelli, 1976;Yunis et al, 1977;Roberts and Duckett, 1978;Dallapiccola et al, 1979;Leschot et al, 1979;Llamas et al, 1981;Jalal et al, 1989;Léonard et al, 1992;Schinzel, 2001]. Of these reports of Dallapiccola et al [1979] and Llamas et al [1981] are de novo aberrations not confirmed by FISH analysis and the one from Schinzel [2001] is the one presented in this article.…”

Section: Discussionmentioning

confidence: 99%

“…Thus far, 9 cases of complete [Magnelli, 1976;Yunis et al, 1977;Roberts and Duckett, 1978;Dallapiccola et al, 1979;Leschot et al, 1979;Llamas et al, 1981;Jalal et al, 1989;Léonard et al, 1992;Schinzel, 2001] and 32 cases of partial and/or mosaic [Stern and Murch, 1975;Rada and Sandlin, 1982;Cohen et al, 1983;McMorrow et al, 1984;Hunter et al, 1985;Mori et al, 1987;Bofinger et al, 1991;O'Connor and Higgins, 1992;Brandt et al, 1994;Hebebrand et al, 1994;Preis et al, 1996;Carrasco Juan et al, 1997;Schinzel et al, 1997;Movahhedian et al, 1998;Chen et al, 1999;Kokalj-Vokac et al, 2000;Engelen et al, 2002;Tschernigg et al, 2002;Kupchik et al, 2005;de Ravel et al, 2005;Sommer et al, 2006] Stern et al [1975]; Mori et al [1987]; Chen et al [1999], and Kupchik et al [2005] each reported a child with a duplication of 16p combined with other duplications or deletions; these are not included in this review. Golden et al [1981] published a propositus having an ''extra genetic material'' present on the short arm of chromosome 16 that was, however, not identified.…”

Section: Discussionmentioning

confidence: 99%

“…Of these reports of Dallapiccola et al [1979] and Llamas et al [1981] are de novo aberrations not confirmed by FISH analysis and the one from Schinzel [2001] is the one presented in this article. In the publications of Leschot et al [1979] and of Roberts and Duckett [1978] there is a concomitant monosomy 21 (q22->qter respectively 21q22.3). This leaves us with only four confirmed complete trisomy 16p published so far: Jalal et al [1989], Léonard et al [1992], Magnelli [1976], and Yunis et al [1977].…”

Section: Discussionmentioning

confidence: 99%

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Long‐term follow‐up of a 26‐year‐old male with duplication of 16p: Clinical report and review

Rochat

Riegel

Schinzel

2007

American J of Med Genetics Pt A

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We report on a 26-year-old male with profound psychomotor retardation and a pattern of dysmorphic features and malformations characteristic for duplication of the short arm of chromosome 16. He has an elongated face, sparse hair, upslanting palpebral fissures, anteverted nostrils, hypoplastic thumbs on both hands, and dislocation of several joints. His chromosome aberration was diagnosed at birth and was due to an unbalanced segregation of a maternal translocation t(2;16)(q36;p11). At 26 years of age he is, to the best of our knowledge, the oldest patient with duplication of 16p reported to date. We present a long-term observation of growth, psychomotor development, dysmorphic features and evolution of his skeletal and joint defects as well as a review of the literature.

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“…While trisomy 16 causes early lethality, trisomy 16p is sometime viable and occasionally associated with sexual ambiguity [Stern and Mureh, 1975;Leschot et al, 1979;Leonard et al, 1992]. As array CGH has become more available, it has become clear that the short arm of chromosome 16, because of abundant low copy repeats (LCR) allowing nonhomologous recombination, is a 'hot spot' for CNV.…”

Section: Discussionmentioning

confidence: 99%

A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including <i>GNG13 </i>and <i>SOX8</i> Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype?

Erickson¹,

Yatsenko²,

Larson³

et al. 2010

Mol Syndromol

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We report a female patient with delayed growth and development, skeletal and cardiac defects, and a male XY sex chromosome complement with early failure of gonad development. SRY sequencing was normal. Array comparative genome hybridization (CGH) analysis revealed a gain in copy number in the subtelomeric region of the short arm of chromosome 16, encompassing a region of approximately 560 kb in size including GNG13 which may be involved in ovarian development. The proximal breakpoint of the duplication maps about 18 kb upstream of SOX8 and involves evolutionary conserved regulatory elements. SOX8, like SOX9, is a transcription factor expressed in many tissues, including neural crest, nervous system, muscle, cartilage, adrenal gland, kidney, and testis. There was no increase in GNG13 or SOX8 expression in the patient’s lymphoblastoid line. It is possible that an alteration of SOX8 or/and GNG13 expression is responsible for the multiple congenital anomalies and sex reversal in our patient.

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Five familial cases with a trisomy 16p syndrome due to translocation

Cited by 35 publications

References 3 publications

16p subtelomeric duplication: a clinically recognizable syndrome

16p subtelomeric duplication: a clinically recognizable syndrome

Long‐term follow‐up of a 26‐year‐old male with duplication of 16p: Clinical report and review

A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including <i>GNG13 </i>and <i>SOX8</i> Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype?

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