A case of insertional translocation resulting in partial trisomy 16p

Kokalj-Vokac, Nadja; Medica, Igor; Zagorac, Andreja; Zagradišnik, Boris; Erjavec, Alenka; Gregorič, Alojz

doi:10.1016/s0003-3995(00)01021-2

Cited by 22 publications

(14 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…Furthermore, a rounded face with prominent glabella, hypertelorism, narrow palpebral fissures, depressed nasal bridge, anteverted nostrils, a thin upper lip and low set ears are reported. Partial trisomy of 16p is reported in five patients [Cohen et al, 1983;Hebebrand et al, 1994;Carrasco Juan et al, 1997;Kokalj-Vokac et al, 2000] and triplication of chromosome region 16p13.1 ! 16p13.2 appears to lead to the specific trisomy 16p syndrome.…”

Section: Introductionmentioning

confidence: 99%

Duplication of chromosome region (16)(p11.2 → p12.1) in a mother and daughter with mild mental retardation

et al. 2002

View full text Add to dashboard Cite

We report a 40‐year‐old female with mild mental retardation and behavior problems and her 6‐year‐old daughter. Chromosome analysis showed that both patients had a proximal duplication in the short arm of chromosome 16. The aberration was characterized further with band‐specific probes, resulting in a 46,XX,dir dup(16)(pter → p11.2::p12.1 → qter) karyotype. The clinical and cytogenetical findings are compared to other patients with partial trisomy 16p reported in the literature. © 2002 Wiley‐Liss, Inc.

show abstract

“…Since atrioventricular septal defect and mental retardation are commonly seen in patients with 3p25-pter deletions, there is evidence that this region harbours a mental retardation related gene (Higgins et al 2000) and another gene responsible for congenital heart disease (Green et al 2000;Phipps et al 1994). On the other hand, the 16p trisomy has been shown to be associated with mental retardation, seizures, ocular abnormalities and multiple dysmorphic features (Kokalj-Vokac et al 2000;Yokoyama et al 1992). Two-color FISH analysis with the respective probes showed no aberrations in the parents metaphase spreads implicating a de novo translocation in this patient.…”

Section: Casementioning

confidence: 68%

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay

Popp¹,

Schulze²,

Granzow³

et al. 2002

Hum Genet

View full text Add to dashboard Cite

Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis. The patients were selected by one or more of the following criteria defined by de Vries et al.: (a) family history with two or more affected individuals, (b) prenatal onset growth retardation, (c) postnatal growth abnormalities, (d) facial dysmorphic features, (e) non-facial dysmorphism and congenital abnormalities. In addition, we included two patients who met these criteria and revealed questionable chromosome regions requiring further clarification. In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments. Our results accentuate the requirement of strict selection criteria prior to patient testing with the M-TEL integrity assay. Another essential precondition is high-quality banding analysis to identify structural abnormal chromosomes. The detection of familial balanced translocation carriers in 50% of the cases emphasizes the significance of such an integrated approach for genetic counselling and prenatal diagnosis.

show abstract

A case of insertional translocation resulting in partial trisomy 16p

Cited by 22 publications

References 18 publications

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

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

Duplication of chromosome region (16)(p11.2 → p12.1) in a mother and daughter with mild mental retardation

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay

Contact Info

Product

Resources

About