The data on the role of consanguinity in male infertility are scarce. The presence of systematic sperm defects in consanguineous respect to non-consanguineous population was demonstrated. Systematic defects are characterized by a specific alteration present in sperm for the whole life of the carrier. This study was aimed at exploring the sperm quality in selected infertile consanguineous patien...

To the Editor: By studying the frequency of consanguinity among parents of children with cystic fibrosis (CF), Romeo et al. [1] conclude that "CF is homogeneously determined by mutations at a single gene in Italy," although the authors leave open the possibility of a very minor, second form. Such a conclusion would be of great importance if correct. Recent discoveries of linkage among CF, a DNA...

BACKGROUND It seems that there is a relationship between consanguinity and profound hearing loss but there is little data about the association of consanguinity and hearing loss in Iran. OBJECTIVES The aim of this study is to demonstrate the causes of profound bilateral sensorineural hearing loss among Iranian samples who are candidates for cochlear implantation. METHODS This study was retr...

objective: although numerous studies have found higher rates of abortion and still births following consanguinity (familial marriages), the question of whether consanguinity significantly increases the risk of neonatal death has inadequately been addressed.this study aims to evaluate familial marriage effects on neonatal death in rural areas in iran. materials and methods: i n this nested case-...

Consanguinity, or the practice of marrying close relatives, is a prevalent phenomenon in many parts world, including North Africa. It seems to offer psychological, social, economic, and cultural advantages for couples their families. In Morocco, situation this marital behavior far from being closely defined. The objective research endeavor furnish comprehensive depiction critical examination fr...

Introduction Marriage between close biological kin is not regarded as advantageous in the western world but in other parts of the world, consanguineous unions persist. Consanguineous marriage increases the birth prevalence of individuals with recessive disorders. In Accra, Ghana, consanguinity is beginning to emerge as a significant cause of rare neurological disease at the central referral hos...

Neurometabolic diseases diagnosed by cerebrospinal fluid (CSF) examination are GLUT1 deficiency, serine-deficiency syndromes, glycine encephalopathy, cerebral folate deficiency, neonatal vitamin-responsive epileptic encephalopathies, disorders of monoamine metabolism, and y-amino butyric acid (GABA) metabolism. We retrospectively analyzed and compared the demographic, clinical, laboratory, and ...

Background: Vascular malformation is extremely rare, yet has a profound impact on quality of life, aesthetic and functional disorders. Aim: To show that endogamy and consanguinity may represent risk factors for labial venous malformation (LVM) development. Materials and Methodology: Among the 18093 scrutinized families on a 20 years back period from marriage registers, five families with a chil...

We report our experience with high resolution microarray analysis in infants and young children with developmental disability and/or aberrant behavior enrolled at the Centro Ann Sullivan del Peru in Lima, Peru, a low income country. Buccal cells were collected with cotton swabs from 233 participants for later DNA isolation and identification of copy number variation (deletions/duplications) and...

The aim of this study was to search for clinical and laboratorial data in 46,XY patients with ambiguous genitalia (AG) and normal testosterone (T) synthesis that could help to distinguish partial androgen insensitivity syndrome (PAIS) from 5α-reductase type 2 deficiency (5α-RD2) and from cases without molecular defects in the AR and SRD5A2 genes. Fifty-eight patients (51 families) were included...