Additional pedigree supporting the frequent origin of XXYY from consecutive meiotic non-disjunction in paternal gametogenesis.

Rinaldi, A; Archidiacono, Nicoletta; Rocchi, Mariano; Filippi, Giorgio

doi:10.1136/jmg.16.3.225

Cited by 18 publications

(8 citation statements)

References 4 publications

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“…Multiple recombinations that would predispose to nondisjunction could be stochastic or might be influenced by one or more autosomal loci. Rinaldi et al (1979) demonstrated paternal nondisjunction in a single patient with 48,XXYY karyotype. But in two of five reported cases of 48,XXXY, maternal nondisjunction was deduced ; Greenstein et al 1970;Sanger et al 1971;Pfeiffer and Sanger 1973;Lorda-S~nchez et al 1992).…”

Section: Resultsmentioning

confidence: 84%

Parental origin of the extra chromosomes in polysomy X

et al. 1994

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Five polymorphic index markers were analyzed by polymerase chain reaction (PCR) to ascertain the parental origin of the extra X chromosomes in seven polysomic cases (one 49,XXXXX, three 49,XXXXY, two 48,XXXY, and one 48,XXYY). All four X chromosomes in 49, X polysomies were maternal in origin and the extra X chromosomes in 48 X polysomies were paternal. In each case the multiple X chromosomes were contributed by a single parent. Taken together with previously reported cases, these data support a single mechanism of sequential nondisjunction during either maternal or paternal gametogenesis as the cause of higher order sex chromosome polysomy.

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Section: Resultsmentioning

confidence: 84%

Parental origin of the extra chromosomes in polysomy X

et al. 1994

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“…Very few studies have reported on further molecular investigations in XXYY males. The parent-of-origin of the extra chromosomes has been evaluated in six cases, and all have identified the extra chromosomes as being paternal in origin [Rinaldi et al, 1979;Leal et al, 1994;Iitsuka et al, 2001]. It is believed that the phenotypic differences in XXYY syndrome and other SCAs likely result from gene dosage effects of genes in the pseudoautosomal regions (PAR) of the X and Y chromosomes that escape X-inactivation.…”

Section: Discussionmentioning

confidence: 99%

A new look at XXYY syndrome: Medical and psychological features

Tartaglia

Davis

Hench

et al. 2008

American J of Med Genetics Pt A

142

210

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XXYY syndrome occurs in approximately 1:18,000-1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. We report on the results of a cross-sectional, multicenter study of 95 males age 1-55 with XXYY syndrome (mean age 14.9 years), describing diagnosis, physical features, medical problems, medications, and psychological features stratified by age groups. The mean age of diagnosis was 7.7 years. Developmental delays and behavioral problems were the most common primary indication for genetic testing (68.4%). Physical and facial features varied with age, although hypertelorism, clinodactyly, pes planus, and dental problems were common across all age groups. Tall stature was present in adolescents and adults, with a mean adult stature of 192.4 cm (SD 7.5; n = 22). Common medical problems included allergies and asthma (>50%), congenital heart defects (19.4%), radioulnar synostosis (17.2%), inguinal hernia and/or cryptorchidism (16.1%), and seizures (15%). Medical features in adulthood included hypogonadism (100%), DVT (18.2%), intention tremor (71%) and type II diabetes (18.2%). Brain MRI (n = 35) showed white matter abnormalities in 45.7% of patients and enlarged ventricles in 22.8%. Neurodevelopmental and psychological difficulties were a significant component of the behavioral phenotype, with developmental delays and learning disabilities universal but variable in severity. Twenty-six percent had full-scale IQs in the range of intellectual disability (MR), and adaptive functioning was significantly impacted with 68% with adaptive composite scores <70. Rates of neurodevelopmental disorders, including ADHD (72.2%), autism spectrum disorders (28.3%), mood disorders (46.8%), and tic disorders (18.9%), were elevated with 55.9% on psychopharmacologic medication overall. Recommendations for evaluation and treatment are summarized.

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“…Very few studies have reported on further molecular investigations in XXYY males. The parent‐of‐origin of the extra chromosomes has been evaluated in six cases, and all have identified the extra chromosomes as being paternal in origin [Rinaldi et al, 1979; Leal et al, 1994; Iitsuka et al, 2001]. It is believed that the phenotypic differences in XXYY syndrome and other SCAs likely result from gene dosage effects of genes in the pseudoautosomal regions (PAR) of the X and Y chromosomes that escape X‐inactivation.…”

Section: Discussionmentioning

confidence: 99%

Surface modification of PCL‐TCP scaffolds improve interfacial mechanical interlock and enhance early bone formation: An in vitro and in vivo characterization

Yeo

Wong

Khoo

et al. 2009

J Biomedical Materials Res

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Pretreatment of polycaprolactone-20% tricalcium phosphate (PCL-TCP) scaffolds under alkaline conditions can be utilized to alter surface characteristics for enhanced early bone formation. PCL-TCP scaffolds were treated with sodium hydroxide (NaOH) at various time intervals (group A: untreated, group B: 3M NaOH for 48 h, and group C: 3M NaOH for 96 h). In vitro results showed a greater degree of physical changes in the NaOH-treated scaffolds (B and C) than the untreated group (A). Clearly, the NaOH-treated scaffolds showed an increased surface roughness than the untreated ones. A significantly large number of "channel-like" pits and greater average pit sizes were detected in groups B (14.51 +/- 10.9 microm) and C (20.27 +/- 14.3 microm); and absent in group A. In addition, treated scaffolds had a significant reduction of the water contact angle (40.9-58.2%). Favorably, the pore dimensions and scaffold rod thickness remained unchanged throughout the experiment. When implanted in the calvaria of rabbits, NaOH-treated scaffolds reported greater early matrix deposition and bone formation from scanning electron images and Micro-computed tomography analyses. In conclusion, pretreatment of PCL-TCP scaffolds with NaOH increases the wettability and surface area for initial matrix deposition and early bone ingrowth.

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Additional pedigree supporting the frequent origin of XXYY from consecutive meiotic non-disjunction in paternal gametogenesis.

Cited by 18 publications

References 4 publications

Parental origin of the extra chromosomes in polysomy X

Parental origin of the extra chromosomes in polysomy X

A new look at XXYY syndrome: Medical and psychological features

Surface modification of PCL‐TCP scaffolds improve interfacial mechanical interlock and enhance early bone formation: An in vitro and in vivo characterization

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