The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a number of other conditions including CHARGE syndrome. This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies,...

it difficult to accurately diagnose the syndrome in some cases. To date, only 3 cases of 3p trisomy with congenital anomalies have been reported in Korea [5-7], and there have been no reports of patients with 3p deletion syndrome, suggesting the rare incidence as well as under-recognition of this syndrome. In this report, we describe the case of a child with the typical features of de novo 3p d...

Forkhead box protein P2 (FOXP2) is a well-studied gene known to play an essential role in normal speech development. Deletions in the gene have been shown to result in developmental speech disorders and regulatory disruption of downstream gene targets associated with common forms of language impairments. Despite similarities in motor planning and execution between speech development and oral fe...

Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, faci...

INTRODUCTION Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities. Here, we report a rare and unusual multiple congenital abnormality, including ano-rectal malformation, in conjunction with chromosome 3q29 segment deletion, which has not previously been reported. CASE PRESENTATION A three-month-old female Jordanian baby presented with an absent anus and co...

Traditionally, product deletion is a reactive decision driven by low sales volume and profit margin. However, the complexities involved in management consumer behavior volatilities make it necessary to account for broad range of financial non-financial factors. Besides, proactive may be required company reduce risk draining resources, adjust market changes, stay competitive. This study develops...

I. Summary In this paper, we develop bounds on the achievable rate for deletion channels. Deletion channels occur when symbols are randomly dropped, and a subsequence of the transmitted symbols is received. Our initial motivation for studying these channels arose in the context of information transmission over nite-buuer queues in packet-switched networks, where the receiver does not have acces...

The fundamental knowledge container in case-based reasoning is the case base of prior experiences. An important focus of recent CBR research is on maintenance strategies for achieving compact, competent case bases, as a way to improve the performance of CBR systems. However, the actual tradeoos between competence, compactness, and performance may be complex. Consequently, this paper argues for ...

The analysis of opaque relations presents a problem to classic Optimality Theory (OT) (Prince and Smolensky 1993, McCarthy and Prince 1993), inherently a surface-oriented theory. Many different proposals have been made to integrate the analysis of opacity into OT. In this paper, we address the problem of opacity in Tundra Nenets (TN), a Uralic (Samoyedic) language spoken in Arctic Russia and No...

Выяснение этиопатогенеза аномального фенотипа у пациентов со сбалансированными транслокациями является актуальным аспектом в современной клинической цитогенетике. Формирование аномалий развития может быть ассоциировано с наличием скрытого геномного дисбаланса как точках разрывов, так и на хромосомах, не задействованных перестройке. Целью данного исследования явилась этиологическая диагностика п...