Neotype designation and redescription of adult male and immature stages of Anopheles (Nyssorhynchus) pictipennis (Philippi) (Diptera: Culicidae)

A neotype is designated for Anopheles (Nyssorhynchus) pictipennis (Philippi) and morphological redescriptions are provided for the adult male, male genitalia, fourth-instar larva and pupa. All specimens, including the neotype were collected in Rio Mapocho, Santiago, Chile in 1945/1946, and were deposited in the Entomological Collection of Faculdade de Saude Publica, Universidade de Sao Paulo (FSP-USP), Brazil. The neotype was previously invalidly designated the allotype of An. pictipennis by Lane and Neghme (1946). Illustrations are provided for diagnostic characteristics of the male genitalia, and larval stage.

UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.