Retinoblastoma

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

Anal atresia

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.


Total: 4

                       


(per page)
PMID (PMCID)
29518772
 FEMALE Infant, Newborn
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
Cakmakl S, Cankaya T, Gursoy S, Koc A, Krbyk O, Klcarslan OA, Ozer E, Ercal D, Bozkaya OG.
Cytogenet Genome Res. 2017;153(4):175-180.
Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities.
21614986
 FEMALE Infant, Newborn
Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.
Yesilyurt A, Dilli D, Oguz S, Dilmen U, Altug N, Candemir Z.
Genet Couns. 2011;22(1):35-40.
Although patients with proximal deletions of 13q that do not extend into band q32 have mild to moderate mental and growth delays with variable minor anomalies, patients with more distal deletions including at least part of band q32 usually have major malformations such as retinoblastoma, mental-motor growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs.
11675686
 MALE Infant, Newborn
A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition.
Chung JL, Choi JR, Park MS, Choi SH.
Yonsei Med J. 2001;42(5):558-62.
"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental & growth retardation, malformation of brain & heart, anal atresia, and anomalies of the face and limbs.
10422012
 MALE Middle Aged
13q deletion syndrome in an adult mentally retarded patient.
Van Buggenhout G, Trommelen J, Hamel B, Fryns JP.
Genet Couns. 1999;10(2):177-81.
Clinical features of the 13q deletion syndrome are difficult to define and include retinoblastoma, mental and growth retardation, craniofacial abnormalities, brain, gastrointestinal, renal and heart malformations, anal atresia and limb and digit malformations.