• Y chromosome microdeletion (YCM) is a family of genetic disorders caused by missing genes in the Y chromosome. Many men with YCM exhibit no symptoms and...
    5 KB (595 words) - 05:15, 12 December 2023
  • Thumbnail for Y chromosome
    The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. Along with the X chromosome, it is part of the XY sex-determination...
    81 KB (8,127 words) - 11:18, 23 June 2024
  • Thumbnail for 17q12 microdeletion syndrome
    17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material...
    14 KB (1,532 words) - 23:48, 7 July 2024
  • Thumbnail for 2p15-16.1 microdeletion syndrome
    2p15-16.1 microdeletion is an extremely rare genetic disorder caused by a small deletion in the short arm of human chromosome 2. First described in two...
    7 KB (624 words) - 05:05, 12 December 2023
  • reveal genetic causes of infertility, e.g. Klinefelter syndrome, a Y chromosome microdeletion, or cystic fibrosis.[citation needed] Scrotal ultrasonography...
    63 KB (7,704 words) - 21:41, 3 June 2024
  • Thumbnail for DiGeorge syndrome
    22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital...
    49 KB (5,271 words) - 23:49, 7 July 2024
  • and include: Age Genetic defects on the Y chromosome Y chromosome microdeletions Abnormal set of chromosomes Klinefelter syndrome Neoplasm, e.g. seminoma...
    14 KB (1,519 words) - 02:04, 28 April 2023
  • Thumbnail for Sertoli cell-only syndrome
    however, several theories have been suggested. These include Y-chromosome microdeletions, notably in the azoospermia factor region, chemical or toxin...
    10 KB (822 words) - 08:53, 7 November 2023
  • Thumbnail for Koolen–De Vries syndrome
    (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes...
    13 KB (1,367 words) - 14:11, 2 July 2024
  • Thumbnail for Deletion (genetics)
    towards the end of a chromosome. Intercalary/interstitial deletion – a deletion that occurs from the interior of a chromosome. Microdeletion – a relatively...
    14 KB (1,537 words) - 02:33, 14 May 2024
  • Thumbnail for Testicular sperm extraction
    the testis. Azoospermia in these patients could be a result of Y chromosome microdeletions, cancer of the testicles or damage to the pituitary gland or...
    12 KB (1,327 words) - 08:23, 3 July 2024
  • Azoospermia factor (category Genes on human chromosome Y)
    genetic abnormalities in male factor infertility are microdeletions on the long arm of the Y chromosome (Yq), specifically at a region known as the azoospermic...
    10 KB (1,143 words) - 00:43, 2 December 2023
  • YCM may refer to: Y chromosome microdeletion, a family of genetic disorders caused by missing genes in the Y chromosome YCM, the IATA code for St. Catharines/Niagara...
    259 bytes (67 words) - 10:50, 30 March 2022
  • Thumbnail for Turner syndrome
    X chromosome or are partially missing an X chromosome (sex chromosome monosomy). Most people have two sex chromosomes (XX or XY). The chromosomal abnormality...
    77 KB (9,046 words) - 03:56, 20 July 2024
  • Thumbnail for Tilak Weerasooriya
    R. Weerasooriya, E. Nieschlag, and S. Simoni. "Frequency of Y-chromosome microdeletions and partial deletions of AZFc region in normozoospermic, severe...
    21 KB (1,593 words) - 13:00, 6 April 2024
  • energy balance. Diagnosis for WAGR syndrome can be made by confirming microdeletion of 11p13 utilizing FISH (fluorescent in situ hybridization), the primary...
    9 KB (967 words) - 13:28, 12 March 2024
  • List of syndromes (section Y)
    alphabetically sorted list of medical syndromes. 13q deletion syndrome 17q21.31 microdeletion syndrome 1p36 deletion syndrome 1q21.1 deletion syndrome 1q21.1 duplication...
    41 KB (4,052 words) - 14:58, 17 June 2024
  • Thumbnail for Ring chromosome
    chromosome fuse without any loss of genetic material, which results in a normal phenotype. Complex rearrangements, including segmental microdeletions...
    15 KB (792 words) - 18:19, 31 May 2023
  • Thumbnail for Chromosome 17
    Wilms tumor-4 The following diseases are related to genes on chromosome 17: 17q12 microdeletion syndrome Koolen–de Vries syndrome Alexander disease Andersen–Tawil...
    26 KB (1,920 words) - 22:52, 28 March 2024
  • Thumbnail for Chromosome 22
    Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the...
    27 KB (2,206 words) - 03:37, 10 March 2024
  • Thumbnail for Rubinstein–Taybi syndrome
    needed] Rubinstein–Taybi syndrome, in many cases, is a microdeletion syndrome involving chromosomal segment 16p13.3 and is characterized by mutations in...
    20 KB (2,252 words) - 16:25, 3 July 2024
  • Thumbnail for Silver–Russell syndrome
    "Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome" (PDF)...
    15 KB (1,617 words) - 10:21, 15 July 2024
  • specific chromosome or chromosomal segment or to identify and evaluate specific DNA dosage abnormalities in individuals with suspected microdeletion syndromes...
    40 KB (5,286 words) - 05:27, 17 June 2024
  • Thumbnail for Neurofibromatosis type I
    database. NF-1 is a microdeletion syndrome caused by a mutation of a gene located on chromosomal segment 17q11.2 on the long arm of chromosome 17 which encodes...
    49 KB (5,635 words) - 23:49, 7 July 2024
  • Thumbnail for Monosomy
    Monosomy (category Chromosomal abnormalities)
    of chromosome 5 1p36 deletion syndrome – a partial monosomy caused by a deletion at the end of the short arm of chromosome 1 17q12 microdeletion syndrome...
    4 KB (336 words) - 03:22, 27 June 2024
  • macrocephaly syndrome, some males with FXS) Syndromes caused by CNVs (e.g.: microdeletion 22q11.2 syndrome) Teratogens (e.g.: valproate aembryopathy) Syndromes...
    17 KB (1,194 words) - 06:44, 8 July 2024
  • PMID 30032214. Wan S, Zheng Y, Dang Y, Song T, Chen B, Zhang J (2019-05-17). "Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome...
    42 KB (969 words) - 16:02, 3 April 2024
  • Chromosome combing (also known as molecular combing or DNA combing) is a technique used to produce an array of uniformly stretched DNA that is then highly...
    7 KB (942 words) - 08:22, 27 April 2024
  • Thumbnail for USP9Y
    USP9Y (category Genes on human chromosome Y)
    Raicu F, Popa L, Apostol P, et al. (2003). "Screening for microdeletions in human Y chromosome--AZF candidate genes and male infertility". J. Cell. Mol...
    8 KB (1,018 words) - 11:18, 18 August 2023
  • Thumbnail for FAM43A
    FAM43A (category Genes on human chromosome 3)
    nervous system to the endocrine system through the pituitary gland. 3q29 microdeletion syndrome (monosomy 3q29) is caused by interstitial deletions of 3q29...
    18 KB (1,640 words) - 09:15, 10 March 2024