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Interstitial microdeletion of chromosome 1p in two siblings.
Two half-siblings are described with what we believe to be the second and third cases identified of the microdeletion, del(1)(p32.1p32.3). Both siblings had a tethered cord and had mentalExpand
The trimmed-haplotype test for linkage disequilibrium.
Single-marker linkage-disequilibrium (LD) methods cannot fully describe disequilibrium in an entire chromosomal region surrounding a disease allele. With the advent of myriad tightly linkedExpand
Interphase cytogenetic analysis of in vivo differentiation in the myelodysplasia of Down syndrome.
In Down syndrome, acute megakaryoblastic leukemia (AMKL) occurs frequently during the first 4 years of life and is usually preceded by a period of myelodysplasia (MDS), often associated withExpand
Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q.
Since the initial report of linkage of autosomal dominant retinitis pigmentosa (adRP) to the long arm of chromosome 3, several mutations in the gene encoding rhodopsin, which also maps to 3q, haveExpand
The EUROGEM map of human chromosome 1.
Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications.
Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have beenExpand
Objective To explore the relationship between DAZ exon in Y chromosome and azoospermia.MethodsDAZ exons were detected by polymerase chain reactions(PCR)in 97 patients with azoospermia and 60 normalExpand
Clinical Utility of High-Throughput Sequencing for Pregnancies with Ultrasound Anomalies in Southern China
We evaluated the clinical utility of high-throughput sequencing for fetal abnormalities detected with ultrasound examination. This study included pregnant women who were at risk for fetal aneuploidyExpand
Frequency of Chromosomal Abnormalities in Subpopulations of Infertile Males among Chinese Hakka Population
The frequency of chromosomal abnormalities is supposed to be elevated in infertile males as well as shown negative correlation of sperm concentration. Cytogenetic analysis, recommended by guidelinesExpand