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

Rochat, Mascha K.; Riegel, Mariluce; Schinzel, Albert

doi:10.1002/ajmg.a.31605

Cited by 16 publications

(12 citation statements)

References 30 publications

(43 reference statements)

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“…Nevertheless, in patients with complete trisomy 16p it was not possible to identify a characteristic phenotype similar to that found in cases with duplication of the distal segment. 15 Pre-and postnatal growth and mental retardation were more severe in patients with complete trisomy 16p. A distinctive phenotype different to that identified in our patients has been recently described in a girl with duplication limited to the Rubinstein -Taybi region on 16p13.3, probably representing a single gene disorder.…”

Section: Discussionmentioning

confidence: 97%

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: 97%

16p subtelomeric duplication: a clinically recognizable syndrome

Digilio¹,

Bernardini²,

Capalbo³

et al. 2009

Eur J Hum Genet

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“…Several literature reports deal with partial duplication of chromosome 16p13 [Kokalj-Vokac et al, 2000;Martin et al, 2002;de Ravel et al, 2005;Rochat et al, 2007], and a common phenotype is suggested, characterized by severe psychomotor retardation, growth delay with microcephaly, seizures, major malformations, such as cleft palate, congenital heart defects and genitourinary abnormalities, and a specific facial appearance with round head, upslanting and narrow palpebral fissures, sparse eyebrows, broad nasal bridge, rounded nasal tip, prominent glabella, long philtrum, thin upper lip and micrognathia. However these duplications are much larger than the duplication detected in our patient and, in addition, they are usually associated with a complex cytogenetic imbalance, affecting different chromosomes.…”

Section: Discussionmentioning

confidence: 99%

Duplication of the Rubinstein–Taybi region on 16p13.3 is associated with a distinctive phenotype

Marangi

Leuzzi

Orteschi

et al. 2008

American J of Med Genetics Pt A

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We report on a 16-year-old girl with a multiple congenital anomalies/mental retardation condition, in which a 1.7 Mb tandem duplication of chromosome region 16p13.3 was detected by array-CGH. Mental retardation was moderate (IQ 45), with very limited speech. She had tall stature with relative microcephaly. Clinical manifestations included distinctive facial appearance with deep set eyes, narrow palpebral fissures, wide nasal bridge, long philtrum, rounded nasal tip, thin upper lip, protruding mandible and abnormal auricles, hand and foot anomalies. The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CBP gene, whose haploinsufficiency is responsible for the Rubinstein-Taybi syndrome. By comparing clinical manifestations of our patient with those of patients carrying similar rearrangements, we could infer that 16p13.3 microduplications encompassing the Rubinstein-Taybi region result in a recognizable clinical condition, most likely representing a single gene disorder.

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“…The distinguishing clinical features of dup16p syndrome, determined by the terminal 16p13.1-p13.3 critical region, include specific facial anomalies, mental retardation, congenital cardiac and vascular defects, urinary malformations, and hypoplastic distal phalanges of hands [6–11]. Our case demonstrated a duplication of the subtelomeric region of chromosome 16p representing a chromosome 16p duplication, encompassing the critical region of 16p13.1-p13.3.…”

Section: Discussionmentioning

confidence: 82%

16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review

Babameto-Laku¹,

Mokini²,

Kuneshka³

et al. 2012

Balkan Journal of Medical Genetics

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A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and pulmonary hypertension. Multiplex ligation-dependent probe amplification (MLPA) demonstrated duplication of the subtelomeric region of chromosome 16p and deletion of the subtelomeric region of chromosome 4q, suggesting a translocation between 4q and 16p. The karyotype of his parents was normal and their MLPA analysis also indicated a de novo imbalance. He had microcephaly, high frontal hairline, thin blond hair, bilateral blepharophimosis and palpebral ptosis, short nose, everted upper lip, cleft palate, micrognathia, cupped anteverted ears, hypoplastic distal phalanges and bilateral inguinal hernia. He also had pulmonary hypertension with tricuspidal regurgitation; cavernous liver hemangioma anomalies have been previously described in association with dup16p. We concluded that pulmonary and other vascular anomalies can be a feature of dup16p. We believe this is the first confirmed case of a 16p subtelomeric duplication with vascular anomalies identified in Albania.

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

Cited by 16 publications

References 30 publications

16p subtelomeric duplication: a clinically recognizable syndrome

16p subtelomeric duplication: a clinically recognizable syndrome

Duplication of the Rubinstein–Taybi region on 16p13.3 is associated with a distinctive phenotype

16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review

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