Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46 , X , t ( X ; 16 ) ( q 28 ; ql 1 . 2 )

Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).

We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;q11.2), in a 13 year old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. Pai syndrome is characterised by median cleft of the upper lip, pedunculated skin mass(es) on the face, and midline lipoma(s) of the central nervous system. The ...

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

Bilateral Congenital Upper Eyelids Ectropion in Case of Bilateral Cleft Lip and Palate

Purpose: To report a case of bilateral congenital Ectropion and its management. Case Report: A newborn with bilateral congenital upper eyelid Ectropion and sign of exposure keratopathy associated with bilateral cleft lip and palate was referred and underwent full thickness skin graft of both upper eyelids. Ectropion was corrected and sign of exposure keratopathy improved. Conclusion: Congenital...

Prenatal diagnosis of holoprosencephaly associated and proboscis in a fetus with de novo deletion 18p

Objective Holoprosencephaly (HPE) is the most common forebrain developmental anomaly in humans with prevalence of 1/ 16, 000 in live borns that results from a failure of prosencepholon cleavage. In most of the cases, due to defective primordial mesenchyme, facial anomalies are observed like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitar...