major congenital anomaly. About one half of these anomalies are detected at birth; the remainder becomes evident later in childhood or, less often, adulthood. Although nongenetic factors may cause malformations, genetic factors are usually responsible. In addition, more than 50 percent of fi rst-trimester spontaneous abortions and at least 5 percent of stillborn infants have chromosomal abnorma...

In a case of classical myelomatosis treated persisted, no evidence of leukemia develwith melphalan, a clone of cells with a oped over a period of observation of 2 yr. chromosomal abnormality was found in The anomaly was interpreted as a duplicathe bone marrow during remission. There tion of part of the long arm of chromowas good reason to think that the hemosome 1 , which appeared to involve th...

We report a successful staged repair for a quite rare combination of truncus arteriosus (TA), Van Praagh type A4, and abnormal origin of the left coronary artery (CA). Furthermore, the case was complicated by a variant of the chromosomal anomaly in cat-cry syndrome. The presence of interruption of the aortic arch (IAA) and abnormal CA origin has been previously reported to increase mortality. T...

A 355 g male fetus was aborted at gestation age of 17 weeks and 6 days by a 31 years old healthy woman with her first gravidity at Haidian Maternal and Children Health Hospital. An ultrasound scan showed no anomaly at 12th gestational weeks (GWs). Down syndrome screening test showed a high risk of open neural tube defects at 16th GW. Three‐dimensional ultrasound scan indicated an irregular anec...

Chromosomal anomalies in human embryos produced by in vitro fertilization are very common, which include numerical (aneuploidy) and structural (deletion, duplication or others) anomalies. Our previous study indicated that chromosomal deletion(s) is the most common structural anomaly accounting for approximately 8% of euploid blastocysts. It is still unknown if these deletions in human euploid b...

Early detection of abnormalities in early pregnancy and they can be terminated once the baby was born with a disability that economic, social and cultural rights, there are a lot of families and community and overhead families and community prevent, so far none of the known human chromosomal abnormalities are treatable and the only way to deal with these diseases limit to prenatal diagnosis and...

Cebocephaly is a very rare congenital midline facial anomaly characterized by a blind-ended single nostril and ocular hypotelorism, and is usually combined with alobar holoprosencephaly. We report here a case of alobar holoprosencephaly with cebocephaly and craniosynostosis. Chromosomal analysis revealed normal karyotyping. The facial dysmorphism was characterized by the single nostril, hypotel...

Methods: With IRB approval, 22 patients (11M, 11F: age 4 to 149 months) with syndromic craniosynostosis (3 Apert, 4 Pfeiffer, 4 Muenke, 3 Crouzon, 2 chromosomal anomaly, 1 craniofrontonasal dysplasia, 5 unknown) underwent PVD for correction of elevated intracranial pressure (n=12) and/ or correction of turribrachycephaly (n=16). Morphometric analysis of sequential CT scout radiographs and later...

The clinical, cytogenetic and dermatoglyphic findings in a patient with a ring chromosome 21 are presented. This anomaly acts as a deletion of chromosomal material and results in specific congenital defects. A comparison is made with 24 cases of deletions involving chromosome 21 described in the literature. Six of these have been studied by means of recently developed chromosome banding techniq...

Double balanced translocations are particularly rare and the risk of a fetus with an unbalanced chromosomal anomaly is greater than for single translocation carriers. In this present case, we describe an interesting family history which included three generations. A couple, married for 4 years, was referred to the genetic clinic due to infertility and family chromosome anomalies. A GTG-band chr...