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[PDF] Top 20 Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract

Has 10000 "Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract" found on our website. Below are the top 20 most common "Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract".

Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract

Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract

... bands 10q25 or ...bands 10q25-10q26.3 are extremely rare and only seven cases have been ...reported. 3 However, it is unknown whether the phenotypes ... See full document

19

Prenatal diagnosis of an interstitial deletion of 10q (10q11.21->q21.1): array comparative genomic hybridization characterization and literature review

Prenatal diagnosis of an interstitial deletion of 10q (10q11.21->q21.1): array comparative genomic hybridization characterization and literature review

... normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic ...Interstitial deletion of chromosome ... See full document

1

Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization and perinatal findings in a fetus with dup(15)(q26.2q26.3)

Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization and perinatal findings in a fetus with dup(15)(q26.2q26.3)

... dup del(15q) has been reported in one case ...15q deletion in a case with three copies of the IGF1R gene, marked intrauterine growth restriction, congenital heart defects, horse- ... See full document

7

Mosaic ring chromosome 21, monosomy 21 and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3

Mosaic ring chromosome 21, monosomy 21 and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3

... phenotype associated with the distal 21q deletion encom- passing the critical regions of HPE and ACC can be ...ring chromosome in which aCGH showed not only the deletions at the ... See full document

6

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1->q31.1)

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1->q31.1)

... (11q22.3q23.3) associated with abnormal maternal serum ...interstitial deletion of chromosome 7q detected by first-trimester Down's syndrome ... See full document

1

Congenital tracheal stenosis in a boy with the 22q13.3 deletion syndrome

Congenital tracheal stenosis in a boy with the 22q13.3 deletion syndrome

... trachea with three-dimensional reconstruction showed a focal nar- rowing of trachea at the level of the vocal ...at 3 years and 5 months of age revealed severe mental retardation and marked speech and ... See full document

6

Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2->q11.21)

Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2->q11.21)

... 115470) is characterized by coloboma of iris, anal atresia with fistula, preauricular tags and/or pits, down-slanting palpebral fissures, cardiac and renal malformations and normal of near- normal mental ... See full document

1

Partial monosomy 3p (3p26.2->pter) and partial trisomy 5q (5q34->qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay

Partial monosomy 3p (3p26.2->pter) and partial trisomy 5q (5q34->qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay

... monosomy 3p (3p26.2pter) and partial trisomy 5q (5q34qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental ... See full document

1

Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome and Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1

Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome and Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1

... fetuses with LGS/TRPS type II and CDLS4 due to haploinsufficiency of TRPS1, RAD21 and EXT1 caused by ...8q23.3-8q24.11 deletion may not present skeletal abnormalities and ... See full document

1

Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction

Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction

... para 1 patient was referred to the hospital at 26 gestational weeks, because of fetal ...at 26 gestational weeks, revealed a growth-restricted fetus with a biparietal diameter of ... See full document

3

NF kappa B2 gene duplication is associated with fetal pyelectasis in partial trisomy 10q (10q24.1 -> qter)

NF kappa B2 gene duplication is associated with fetal pyelectasis in partial trisomy 10q (10q24.1 -> qter)

... Subject Category: Genetics & Heredity; Obstetrics & Gynecology ISI Document Delivery No.: 293CX.[r] ... See full document

2

Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele

Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele

... Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan; [Chen, Chih-Ping] Asia Univ, Dept Biotechnol, Taichung, Taiwan; [Chen, Chih-Ping] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taic[r] ... See full document

2

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization

... the 3q duplication syndrome such as hypertrichosis, bushy eyebrows, broad nose with anteverted nares and depressed nasal bridge, hypertelorism, long philtrum, low-set ears with malformed ... See full document

1

Rapid aneuploidy diagnosis of partial trisomy 7q (7q34->qter) and partial monosomy 10q (10q26.12->qter) by array comparative genomic hybridization using uncultured amniocytes

Rapid aneuploidy diagnosis of partial trisomy 7q (7q34->qter) and partial monosomy 10q (10q26.12->qter) by array comparative genomic hybridization using uncultured amniocytes

... monosomy 10q ...para 1, woman underwent amniocentesis at 20 weeks of gestation because of a previous mentally retarded child with an unbalanced reciprocal translocation inherited from the ... See full document

7

Prenatal diagnosis of partial monosomy 1q (1q42.3->qter) associated with hydrocephalus and corpus callosum agenesis

Prenatal diagnosis of partial monosomy 1q (1q42.3->qter) associated with hydrocephalus and corpus callosum agenesis

... fetus with fetal biometry equivalent to 19 weeks, bilateral ventriculomegaly and cor- pus callosum ...46,XX,del(1)(q42.3) with partial monoso- my 1q ... See full document

6

Prenatal diagnosis of directly transmitted benign 4q12-q13.1 quadruplication associated with tandem segmental amplifications of the LPHN3 gene

Prenatal diagnosis of directly transmitted benign 4q12-q13.1 quadruplication associated with tandem segmental amplifications of the LPHN3 gene

... artificial chromosome clone probes mapping the genomic region of 4q13.1 and a control probe mapping ...artificial chromosome clone probes ... See full document

4

(1) So we have 1 = 2q1+ q q2 (3) Thus we have

(1) So we have 1 = 2q1+ q q2 (3) Thus we have

... (4) 1.1.2 2. Solve for the unique pricing kernel q ∗ ...hXi is like a plane in a three dimension space. Since we have q 1 and q 2 and have no idea of q 3 , ... See full document

7

X2 X1q X0q2 X1q2 X2q2

X2 X1q X0q2 X1q2 X2q2

... Next we shall show G 0 n are irreducible polynomials, for all n. Theorem 3.10. G 0 n are polynomials, for all n. Proof. Clearly G 0 0 , G 0 1 and G 0 2 are polynomials. It is not hard to see ... See full document

9

Chromosomal gain of 3q and loss of 11q often associated with nodal metastasis in early stage cervical squamous cell carcinoma

Chromosomal gain of 3q and loss of 11q often associated with nodal metastasis in early stage cervical squamous cell carcinoma

... changes is critical to understanding the molecular basis of tumor progression, as well as for identifying genetic markers for early identification of patients at high risk for a poor ... See full document

1

Partial trisomy 10q (10q25.1->qter) and partial monosomy 13q (13q34->qter) presenting with fetal pyelectasis: prenatal diagnosis and array comparative genomic hybridization characterization

Partial trisomy 10q (10q25.1->qter) and partial monosomy 13q (13q34->qter) presenting with fetal pyelectasis: prenatal diagnosis and array comparative genomic hybridization characterization

... trisomy 10q syndrome is a well-defined but rare syndrome characterized by a high and large forehead, a round and flat face, epicanthal folds, hypertelorism, fine eyebrows, antimongoloid slants, ... See full document

5

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