OBJECTIVE Chromosomal aberrations are common causes of multiple anomaly syndromes. Recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques. MATERIALS AND METHODS In this retrospective study, the incidences of chromosomal aberrations were evaluated in a six year period from 2005 to 2011 i...

Pectus excavatum (PEx) is the most common congenital anomaly of the chest wall and is seen in association with many chromosomal syndromes and connective tissue disorders. It causes distortion of the physical and electrical orientation of the heart. We present a case with classic ECG changes along with a selected echocardiographic and a CT image.

Translocation t(2p;3q) is a rare but recurrent finding in myeloid disorders. We present the first case of primary myelofibrosis with t(2;3)(p21;q26) as the sole chromosomal anomaly. The comparison with the 11 other previously published myeloid-associated t(2p;3q) cases confirms that this nonrandom translocation involves a pluripotent stem cell and is associated with a poor prognosis.

We report the case of a 35-year-old man admitted due to heart failure, who had had moderate cognitive deficit, craniofacial dysmorphism, epilepsy, panic attacks and congenital heart disease (subvalvular aortic stenosis) associated with chronic atrial fibrillation since childhood. In view of his facial dysmorphism and clinical presentation, karyotype analysis was performed and revealed a de novo...

Congenital diaphragmatic hernia is a common developmental anomaly encountered by paediatric surgeons. It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel's diverticulum, and heterotopic pancreatic tissue. This is the first...

Albright, Burnett, Smith, and Parson (I942) investigated a female patient of 28 years who had suffered from idiopathic epilepsy since the age of I2. Because the bones of the skull were unusually dense, hypoparathyroidism was suspected. The diagnosis was made when it was found that her Chwostek sign was positive and that her serum calcium and phosphorus levels were 6-4 and 6o mg. per I00 ml. res...

The prevalence of sex chromosomal anomalies (SCA) is higher after treatment with intracytoplasmic sperm injection (ICSI) than in naturally conceived pregnancies. This finding is not only important in the debate about the genetic safety of ICSI, it also has repercussions on the design of appropriate strategies for prenatal and preimplantation diagnosis in ICSI pregnancies. We discuss here in det...

OBJECTIVE To define the prevalence and characteristics of associated congenital heart diseases (CHDs) in patients with Hirschsprung's disease (HSCR). METHOD All patients with a histological diagnosis of HSCR admitted to our hospital between January 2010 and December 2013 were included in this prospective observational study and underwent cardiovascular screening. Cardiac anatomy was assessed ...

In this case report, three different crossbreedings of pet rabbits were performed producing affected as well as healthy bunnies. All affected rabbits were smaller and had local alopecia, exophthalmus, and limb deviations compared to their healthy littermates; thus, a homozygous form of Pelger-Huet anomaly was suspected. This anomaly was confirmed by blood examination in which granulocytes with ...

BACKGROUND Ovarian cancer represents the leading cause of death among patients with gynaecological cancer. The identification of chromosomal abnormalities is a useful strategy toward understanding tumourigenesis and specific chromosomal associations. Since single chromosomal changes might be primary events implicated in the initiation of the neoplastic process, the aim of the present study was ...