Trisomy 18p

Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.

Azoospermia

Absence of any measurable level of sperm in his semen.


Total: 3

                       


(per page)
PMID (PMCID)
26042156
(4453045)
 OTHER
Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature.
Jedraszak G, Copin H, Demailly M, Quibel C, Leclerc T, Gallet M, Benkhalifa M, Receveur A.
Mol Cytogenet. 2015;8:34.
We suggest that azoospermia is a previously uncharacterized feature of trisomy 18p syndrome.
26042156
(4453045)
 OTHER
Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature.
Jedraszak G, Copin H, Demailly M, Quibel C, Leclerc T, Gallet M, Benkhalifa M, Receveur A.
Mol Cytogenet. 2015;8:34.
Azoospermia and trisomy 18p syndrome: a fortuitous association?
26042156
(4453045)
 OTHER
Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature.
Jedraszak G, Copin H, Demailly M, Quibel C, Leclerc T, Gallet M, Benkhalifa M, Receveur A.
Mol Cytogenet. 2015;8:34.
To our knowledge, this is the first patient with trisomy 18p to present a fertility impairment due to totally altered spermatogenesis and azoospermia.