Clinical significance of 99mTc thyroid scintigraphy in children with congenital hypothyroidism / 中华内分泌代谢杂志

Forty-three children with congenital hypothyroidism(CH)underwent 99mTc thyroid scintigraphy, after being followed up by receiving levothyroxine till 2 to 3 years of age. The results showed that thyroid agenesia happened in 37 cases( 86.05% ) while entopic gland in 6 cases (13.95% ). Thyroid scintigraphy with 99mTc is an informative procedure in determining etiology and treatment schedules for children with CH.

Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18

Isodicentric chromosome 18 [idic[18]] is rare structural aberration. We report on a prenatal case described by conventional and molecular cytogenetic analyses. The sonography at 24 weeks of gestation revealed multiple fetal anomalies; radial aplasia and ventricular septal defect were significant features. Routine karyotyping showed a derivative chromosome replacing one normal chromosome 18. the parental karyotypes were normal, indicating that the derivative chromosome was de novo. Array comparative genomic hybridization [array-CGH] revealed 18p11.21[right wards arrow] qter]. Fluorescent in situ hybridization [FISH] confirmed that the derivative chromosome was idic[18]. Our report describes a rare isodicentric chromosome 18 and demonstrates that array-CGH is a useful complementary tool to cytogenetic analysis for reliable identifying derivative chromosome

Detection and analysis of genomic copy number variations in a 46,X0, +der(?) fetus by array-based comparative genomic hybridization / 基础医学与临床

Objective To understand genomic copy number variations (CNVs) and ascertain karyotype for a 46,X0, + der(?) fetus, and investigate possibility and superiority of array-based comparative genomic hybridization (array-CGH ) in clinical cytogenetic diagnosis. Methods G-banded chromosome analysis was carried out. The whole genome of the fetus was scanned and analysed by array-CGH. The results of array-CGH were confirmed by RT-qPCR. Results G-banded chromosome analysis showed that the fetal karyotype was 46,X0, +der(?). Array-CGH revealed the derivative chromosome as Y chromosome without CNVs. A total number of 118 submicroscopic CNVs were identified. Comparable results between array-CGH and RT-qPCR were obtained for 9 novel CNVs. Conclusion Comparing with conventional cytogenetic analysis, array-CGH is of high resolution, high-throughput and high accuracy, which provides a technical platform for accurate detection of submicroscopic chromosomal aberrations.

A recurrent rhodopsin gene missense mutation in a Chinese family with autosomal dominant retinitis pigmentosa / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect mutation in the rhodopsin gene (RHO) in a Chinese family with autosomal dominant retinitis pigmentosa (ADRP).</p><p><b>METHODS</b>A total of 25 family members from a Chinese family were investigated. All the subjects were examined clinically by direct funduscopy, perimetry and vision test. Evaluation of the proband included electroretinography (ERG). Genomic DNA was extracted using standard method. The complete coding regions of RHO were amplified by polymerase chain reaction (PCR) and the PCR products were subjected to automatic DNA sequencing.</p><p><b>RESULTS</b>512 C>T (P171L), a recurrent missense mutation was detected in the proband. All 12 affected subjects in the family were heterozygous for the mutation. The affected individuals had night blindness at the age of 5-6 years. They had relatively severe impairment of visual acuity and suffered a gradual loss of peripheral visual field at the age of 20-30 years. And they went blind at the age of 40-50 years. Rod and cone ERG were not detectable in the proband.</p><p><b>CONCLUSION</b>A recurrent missense mutation, 512C>T (P171L), was detected in a Chinese family with ADRP.</p>

Screening for chromosomal abnormalities with three maternal serum markers / 中国医师杂志

0.05).But the detection rates of them were all higher than that of AFP alone(P

Study on Maternal Serum AFP, ?-hCG and PAPP-A as Predictors for Screening Birth Deficiency / 中华围产医学杂志

2.4M, PAPP-A2.0M and AFP