ABSTRACT We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. (who.int)
Parental interview and family were defined as abnormalities that impede history are often used to validate the cause the normal body functions and reduce life of congenital abnormalities. (who.int)
The later amination were carried out to assess the survival or reproduction of the affected in- major congenital abnormalities. (who.int)
There is a higher incidence of major · congenital malformations among Arabs of Chromosomal aberrations the Gulf region [ 12,13 ]. (who.int)
Hypospadias is a congenital condition, typically comprising one or more of three abnormalities in the penis . (ro.co)
Other frequently reported clinical characteristics are congenital heart defects, kidney problems, abnormalities of the female genitalia, spina bifida, anal abnormalities, positional foot deformities, hypertonia and self-harming behaviour. (biomedcentral.com)
Disorders/differences of sex development ( DSD , also referred to as intersex) are congenital conditions in which chromosomal, gonadal or phenotypic sex are different from what is seen as typically male or female. (pediatricurologybook.com)
Genital2
These genital abnormality and they represent 30% data were reconfirmed by the data available of all admissions in hospitals [ 1-4 ]. (who.int)
Anatomical resources for either male or female development and variations are present in the early weeks of gestation ( Table 2 ) gonadal ridge, Wolffian (mesonephric) and Müllerian (paramesonephric) ducts, cloaca and subsequent urogenital sinus, genital tubercle and labioscrotal swellings. (pediatricurologybook.com)
Chromosome2
Table 1 provides a summary outline of the gene symbols, chromosomal locations, radiation sensitivity characteristics, immunodeficiencies, chromosome breakage characteristics, and major cancer risk for each of these disorders. (medscape.com)
Genetic abnormalities may alter fertility by affecting sperm production or transport, such as cystic fibrosis, Y chromosome deletions, and other chromosomal abnormalities. (bostonurology.com)
Craniofacial2
Conclusion: NFIA haploinsufficiency can be suspected through careful observation of specific dysmorphisms, including macrocephaly and craniofacial abnormalities. (bvsalud.org)
also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. (bvsalud.org)
Genetic7
Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. (medscape.com)
Couples should consider genetic counseling whenever a genetic abnormality is found. (bostonurology.com)
Amniocentesis is a test you may be offered during pregnancy to check if your baby has a genetic or chromosomal condition, such as Down's syndrome, Edwards' syndrome or Patau's syndrome. (themasterpiecemom.com)
If your test shows that your baby has a genetic or chromosomal condition, the implications will be fully discussed with you. (themasterpiecemom.com)
If you're offered tests to look for a genetic or chromosomal condition in your baby, a specialist involved in carrying out the test will be able to discuss the different options with you and help you make a decision. (themasterpiecemom.com)
The table below shows the correlation of maternal age (mother's age) and the potential risk of human genetic abnormalities in children. (edu.au)
In contrast, international collection of detailed phenotypes lags behind the collection of genetic data because only a minority of rare chromosomal aberration cases are submitted to international databases like DECIPHER ( https://www.deciphergenomics.org ), and case reporting relies on health professionals having the time and willingness to submit information. (biomedcentral.com)
Anomalies2
Advanced maternal age and risk of non-chromosomal anomalies: data from a tertiary referral hospital in Turkey [8] "The purpose of this study is to determine if there is a relationship between non-chromosomal fetal anomalies of various organ systems and advanced maternal age. (edu.au)
The 2006 consensus definition is more expansive than what were previously referred to as intersex conditions, also including anatomic anomalies such as cloacal and bladder exstrophy and vaginal agenesis, and chromosomal abnormalities that do not cause atypical genitalia (e.g. (pediatricurologybook.com)
Developmental1
Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. (nih.gov)
Intersex1
These include intersex characteristics and may be caused by underlying chromosomal abnormalities. (ro.co)
Syndrome2
most practicing physicians may never see a patient with a chromosomal breakage syndrome. (medscape.com)
The first column shows maternal age, the second column shows the most common human chromosomal abnormality, trisomy 21 (Down syndrome), the third column shows all chromosomal abnormalities. (edu.au)
Infertility1
Common problems in male related infertility are sperm count, motility or structural abnormalities. (jri.ir)
Malformations1
Of the 49 babies with multiple malformations, 21 (42.8%) had recog- nized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. (who.int)
Infections1
Some men may have infections of the urogenital tract found by the presence of white blood cells in the semen. (bostonurology.com)
Intellectual1
Central nervous system abnormalities, including small head size, intellectual disability , poor fine motor skills, or poor eye-hand coordination. (symptoma.com)
Rare2
Monosomy 21 is a rare chromosomal abnormality, with only nine cases reported in the literature. (elsevierpure.com)
One of the rare and severe causes of structural abnormality is globozoospermia. (jri.ir)
Occur1
Liver enzyme abnormalities: Persistent elevations in hepatic transaminases can occur. (nih.gov)
Conditions2
Hormonal abnormalities can often be treated with medications for prolactin-producing tumors of the pituitary gland, thyroid imbalances, or low testosterone conditions. (bostonurology.com)
ZOCOR has not been studied in conditions where the major abnormality is elevation of chylomicrons (i.e., hyperlipidemia Fredrickson types I and V). (globalrph.com)
Congenital abnormalities4
ABSTRACT We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. (who.int)
Parental interview and family were defined as abnormalities that impede history are often used to validate the cause the normal body functions and reduce life of congenital abnormalities. (who.int)
The later amination were carried out to assess the survival or reproduction of the affected in- major congenital abnormalities. (who.int)
Fanconi anemia (FA) is a rare autosomal recessive disease characterized by congenital abnormalities, progressive bone marrow failure, and cancer susceptibility. (ashpublications.org)
Autosomal recessive2
Of the 49 babies with multiple malformations, 21 (42.8%) had recog- nized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. (who.int)
C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C98683 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconic Aciduria Type 1 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. (nih.gov)
Skeletal2
It is characterized by intellectual disabilities and the Greek warrior helmet appearance of the nose and forehead, as well as multiple other defects (skeletal, cardiovascular, and urogenital). (medscape.com)
3- , 5 FA patients often have skeletal abnormalities (e.g., thumb or limb abnormalities) and abnormal skin pigmentation (e.g., hypopigmentation or café au lait spots). (ashpublications.org)
Limb1
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al. (nih.gov)
Surgery1
d) Surgical complications: The procedures that are performed during surgery on the urogenital organs or hernia repair cause scarring that results to blockage. (atozdiseases.com)
Reproductive1
The causes of non-obstructive azoospermia is abnormalities with the reproductive hormones or the testicles that control production of sperm. (atozdiseases.com)
Problems1
These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. (nih.gov)
Disease1
Trisomy 13 was first observed by Thomas Bartholin in 1657, but the chromosomal nature of the disease was ascertained by Dr. Klaus Patau and Dr. Eeva Therman in 1960. (wikipedia.org)
Combination2
The clinical picture varies, depending upon the combination of abnormalities. (nih.gov)
Still others involve a combination of these structural abnormalities. (nih.gov)
Cells1
In culture, cells from affected individuals exhibit elevated rates of chromosomal breakage or instability, leading to chromosomal rearrangements. (medscape.com)