1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation

Hu, Ping; Wang, Yan; Meng, Lulu; Qin, Ling; Ma, Dong‐Lai; Yi, Long; Xu, Zhengfeng

doi:10.1186/1755-8166-6-30

Cited by 17 publications

(15 citation statements)

References 22 publications

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“…SNP array experiments were carried out as previously described (18) and molecular karyotype analysis was performed by KaryoStudio V 1.4.3.0 (Illumina). Human cyto12 SNP array (Illumina, San Diego, CA) comprising about 300,000 SNP probes with average marker spacing of roughly one probe for every 10 kb was applied for the whole-genome scan.…”

Section: Snp Array Analysismentioning

confidence: 99%

Clinical application of SNP array analysis in first‐trimester pregnancy loss: a prospective study

Wang¹,

Cheng

Meng³

et al. 2016

Clinical Genetics

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Chromosomal microarray analysis (CMA) has been used routinely in pediatric and prenatal genetic diagnosis in clinical practice, but it has rarely been applied to miscarriage analysis. In this study, we conducted a prospective study to evaluate the feasibility of CMA for genetic diagnosis of first-trimester miscarriage specimens. We successfully analyzed 551 fresh miscarriage specimens using single-nucleotide polymorphism (SNP) array. Among the specimens, 2.9% (16/551) had significant maternal cell contamination and were excluded from the study. Clinically significant chromosomal abnormalities were identified in 295 (55.1%) cases, including 214 (40%) with aneuploidy, 40 (7.5%) with polyploidy, 19 (3.6%) with partial aneuploidy, 12 (2.2%) with pathogenic microdeletion/microduplication, and 10 (1.9%) with uniparental isodisomy (isoUPD). Variants of uncertain significance were obtained in 15 cases (2.8%). Notably, isoUPD involving a single chromosome (chromosome 22) and two recurrent copy number variations, 22q11.2 microdeletion and 7q11.23 microdeletion, were identified as probably to be associated with miscarriage. The frequency and distribution of genetic aberrations in the spontaneous abortion group was not significantly different from those in the recurrent miscarriage group. Our study suggests SNP array is a reliable, robust, and high-resolution technology for genetic diagnosis of miscarriage in clinical practice.

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Section: Snp Array Analysismentioning

confidence: 99%

Clinical application of SNP array analysis in first‐trimester pregnancy loss: a prospective study

Wang¹,

Cheng

Meng³

et al. 2016

Clinical Genetics

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“…In 8 previously documented cases of 1q deletions ecompassing the 1q31.2q31.3 region, most presented with growth retardation, psychomotor retardation, and lip/palate anomalies phenotypes. In our patient, her bipolar disorder, behavioral abnormalities, learning disabilities and atypical aspects might be associated with inherited deletion of 1q (11). Patient's parental FISH revealed that the proband's mother is a carrier for the same 1q31.2-31.3 deletion, but she has no clinical or laboratory evidence of hyperparathyroidism, which may be explained by incomplete penetrance or phenotypic variability.…”

Section: Case Reportmentioning

confidence: 64%

“…Herein, we present a case of TS with hyperparathyroidism that was found to have a 1q deletion. Patients with 1q deletions have been reported to have growth retardation and psychomotor delay, genital, cardiac, face, and extremities anomalies (11). Additionally, de novo deletions in this region have been associated with developmental delay, agenesis of the corpus callosum and cerebellar hypoplasia (12).…”

Section: Introductionmentioning

confidence: 99%

Inherited Deletion of 1q, Hyperparathyroidism, and Signs of Y-Chromosomal Influence in a Patient with Turner Syndrome

Siller¹,

Shimony²,

Shinawi³

et al. 2018

Jcrpe

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We report a detailed phenotypic, cytogenetic, and molecular characterization of a patient diagnosed prenatally with Turner syndrome (TS). In addition to having typical TS clinical characteristics such as a webbed neck, high arched palate, and coarctation of the aorta, the patient had features less frequently seen in TS, including recurrent parathyroid adenomas, growth along the 75th-90th centiles on the TS height curve despite a minimal treatment with growth hormone, behavioral problems, and evidence of gonadal dysgenesis with testicular-like structures, such as seminiferous tubules lined by Sertoli cells and a contiguous nodule of Leydig cells. While fluorescence in-situ hybridization (FISH) failed to detect Y-chromosome material in gonadal tissue or blood samples, chromosomal microarray analysis (CMA) confirmed monosomy X, and a 4.69 Mb copy number loss on 1q31.2q31.3 (bp 192,715,814 to 197,401,180). This region involves genes including CDC73, which have been associated with hyperparathyroidism-jaw tumor syndrome that features recurrent functional parathyroid adenomas as well as behavioral issues. This case illustrates how atypical features in a TS patient, such as robust growth and recurrent parathyroid adenomas, may suggest an underlying molecular etiology that should be explored by additional genetic diagnostic modalities. It is therefore appropriate in such cases to conduct further genetic testing, such as CMA and FISH, to explore other diagnostic possibilities and possibly prevent further complications. Key Terms: Turner Syndrome, Genetic testing, Hyperparathyroidism, Inherited 1q Deletion, Signs of YChromosomal Influence.

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“…Genomic DNA was examined by Human cyto12 SNP-array scanning (Illumina, United States), which comprised about 300,000 SNPs across the whole genome. SNP-array experiments were carried out as previously described ( Hu et al, 2013 ) and molecular karyotype analysis was performed by KaryoStudio V 1.3.11(Illumina). Parental blood samples from each fetus were also obtained for the microarray analysis.…”

Section: Case Presentationmentioning

confidence: 99%

Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies

Pan²,

Wang

et al. 2018

Front. Genet.

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Background: The phenotype of duplication of 1q21.1 region is variable, ranging from macrocephaly, autism spectrum disorder, congenital anomalies, to a normal phenotype. Few cases have been reported in the literature regarding prenatal diagnosis of 1q21.1 duplication syndrome. The current study presents prenatal diagnosis of 1q21.1 duplication syndrome in three fetuses with ultrasound anomalies.Case presentation: Three fetuses from three unrelated families were included in the study. The prenatal routine ultrasound examination showed nasal bone loss in Fetus 1 and Fetus 3, as well as duodenal atresia in Fetus 2. Chromosomal microarray analysis was performed to provide genetic analysis of amniotic fluid and parental blood samples. The CMA results revealed two de novo duplications of 1.34 and 2.69 Mb at distal 1q21.1 region in two fetuses with absent nasal bone, as well as a maternal inherited 1.35-Mb duplication at distal 1q21.1 in one fetus with duodenal atresia.Conclusions: The phenotype of 1q21.1 duplication syndrome in prenatal diagnosis is variable. The fetuses with nasal bone loss or duodenal atresia may be related to 1q21.1 duplication and chromosomal microarray analysis should be performed.

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1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation

Cited by 17 publications

References 22 publications

Clinical application of SNP array analysis in first‐trimester pregnancy loss: a prospective study

Clinical application of SNP array analysis in first‐trimester pregnancy loss: a prospective study

Inherited Deletion of 1q, Hyperparathyroidism, and Signs of Y-Chromosomal Influence in a Patient with Turner Syndrome

Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies

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