De novo partial duplications 1p: Report of two new cases and review

Garcia-Heras, Jaime; Corley, Norlela; Garcia, Mary F.; Kukolich, Mary K.; Smith, Kathryn J.; Day, Donald W.

doi:10.1002/(sici)1096-8628(19990129)82:3<261::aid-ajmg13>3.3.co;2-c

Cited by 12 publications

(22 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…15 Moreover, duplication of 1p31-p32.3 has been reported in some cases of 46,XY DSD. 16,17 Interestingly, the related dmrta2 in the Tilapia fish maps in a quantitative trait locus region for sex determination. 18 Here, we report the results obtained from the analysis of 24 patients with 46,XY testicular DSD.…”

Section: Introductionmentioning

confidence: 99%

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

et al. 2009

View full text Add to dashboard Cite

The distal region on the short arm of chromosome 9 is of special interest for scientists interested in sex development as well as in the clinical phenotype of patients with the 9p deletion syndrome, characterized by mental retardation, trigonocephaly and other dysmorphic features. Specific genes responsible for different aspects of the phenotype have not been identified. Distal 9p deletions have also been reported in patients with 46,XY sex reversal, with or without 9p deletion syndrome. Within this region the strongest candidates for the gonadal dysgenesis phenotype are the DMRT genes; however, the genetic mechanism is not clear yet. Multiple ligation-dependent probe amplification represents a useful technique to evaluate submicroscopic interstitial or distal deletions that would help the definition of the minimal sex reversal region on 9p and could lead to the identification of gene(s) responsible of the 46,XY gonadal disorders of sex development (DSD). We designed a synthetic probe set that targets genes within the 9p23-9p24.3 region and analyzed a group of XY patients with impaired gonadal development. We characterized a deletion distal to the DMRT genes in a patient with isolated 46,XY gonadal DSD and narrowed down the breakpoint in a patient with a 46,XY del(9)(p23) karyotype with gonadal DSD and mild symptoms of 9p deletion syndrome. The results are compared with other patients described in the literature, and new aspects of sex reversal and the 9p deletion syndrome candidate regions are discussed.

show abstract

Section: Introductionmentioning

confidence: 99%

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

et al. 2009

View full text Add to dashboard Cite

show abstract

“…In all, 14 cases with interstitial duplications of 1p have been reported. 16 -18 Although several of the common clinical manifestations have been reviewed, 17 a consensus duplication syndrome has not been clinically defined due to the variety of breakpoints and lack of common segments involved.…”

Section: Introductionmentioning

confidence: 99%

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

Gajęcka

Ballif

et al. 2004

Eur J Hum Genet

View full text Add to dashboard Cite

Structural chromosome abnormalities have aided in gene identification for over three decades. Delineation of the deletion sizes and rearrangements allows for phenotype/genotype correlations and ultimately assists in gene identification. In this report, we have delineated the precise rearrangements in four subjects with deletions, duplications, and/or triplications of 1p36 and compared the regions of imbalance to two cases recently published. Fluorescence in situ hybridization (FISH) analysis revealed the size, order, and orientation of the duplicated/triplicated segments in each subject. We propose a premeiotic model for the formation of these complex rearrangements in the four newly ascertained subjects, whereby a deleted chromosome 1 undergoes a combination of multiple breakage-fusion-bridge (BFB) cycles and inversions to produce a chromosome arm with a complex rearrangement of deleted, duplicated and triplicated segments. In addition, comparing the six subjects' rearrangements revealed a region of overlap that when triplicated is associated with craniosynostosis and when deleted is associated with large, late-closing anterior fontanels. Within this region are the MMP23A and -B genes. We show MMP23 gene expression at the cranial sutures and we propose that haploinsufficiency results in large, late-closing anterior fontanels and overexpression results in craniosynostosis. These data emphasize the important role of cytogenetics in investigating and uncovering the etiologies of human genetic disease, particularly cytogenetic imbalances that reveal potentially dosage-sensitive genes.

show abstract

“…Low birth weight, growth retardation, craniofacial, neck and limb anomalies, diaphragmatic eventrations and tetralogy of Fallot [Garcia‐Heras et al, 1999…”

Section: To the Editormentioning

confidence: 99%

Array‐CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

Piccione

Antona

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Array comparative genomic hybridization (array CGH) has recently lead to the characterization of many novel microdeletion and microduplication syndromes; it has revolutionized the genetic testing available for patients with learning disabilities, who have the ''chromosomal phenotype'' with dysmorphic features and multiple anomalies [Slavotinek, 2008]. Chromosome duplications involving 1p are rarely reported (fewer than 20 patients in the literature) and a distinct phenotype has yet to be defined; patients appear to have short survival, as well as impaired development and congenital malformations, such as congenital heart defects [Lennon et al., 2006]. Among the reported duplicated 1p cases, the variable phenotypic expressivity likely reflects the variation of the duplicated 1p segments.Here we report on a case of duplication of 1p with novel phenotypic and developmental features. During the pregnancy there were threats of miscarriage. He was born at 40 weeks gestation by a normal vaginal delivery with APGAR scores of 9 and 10. Birth weight was 2,950 g (10th-25th centile), length was 50 cm (25th-50th centile), and occipitofrontal head circumference was 34.7 cm (25th-50th centile). Walking independently occurred when he was 1 year old. Since the first year of life, he had difficulty with establishing relationships, as well as psychomotor and language retardation. Astigmatism was diagnosed at 4 years. At 5 years he had a reduction in growth parameters, so the following tests were performed, with normal results: anti-gliadin IgA and IgG, antiendomysium IgA and IgG, free and total T4, T3, TSH, and allergy skin prick testing. Additional normal studies included mutation analysis of the FMR1 gene and urine amino acids, organic acids, and reducing substances. Abdominal ultrasonography showed slight hepatosplenomegaly. EEG during sleep and awake was unremarkable, and IQ was 50. Karyotype was 46,XY; left-hand bone age was 17, according to the Tanner-Whitehouse 2 standards. His family history was negative for mental retardation, behavior anomalies, or birth defects; his parents were nonconsanguineous.He was first evaluated by us at age 17 years. Physical exam showed the following: scant adipose tissue, narrow forehead, small receding chin, prominent nasal bridge, flat nose, short philtrum, midface hypoplasia (Fig. 1), arachnodactyly of the fingers (Fig. 2), and fingers and toes with joint hyperlaxity. A left-hand bone age was equivalent to his chronological age. He had stereotyped movements, such as finger snapping and repeated mannerisms with obsessive-compulsive behavior; his full-scale IQ was 64, with a range between 56 (performance IQ) and 76 (verbal IQ). The psychological profile was compatible with an autism spectrum disorder with mild mental deficiency, based on the Autism Diagnostic Observation Schedule (ADOS) module 4. A brain MRI scan was normal.An array-CGH analysis was performed according to the manufacturer's instructions: DNA of the proband and a control were extracted with a Puregene DNA Isolation Kit (Gentra ...

show abstract

De novo partial duplications 1p: Report of two new cases and review

Cited by 12 publications

References 8 publications

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

Array‐CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

Contact Info

Product

Resources

About