Acute lymphoblastic leukemia (ALL) occurs with high frequency in childhood and is associated with high mortality in adults. Recent technical advances in next-generation sequencing have shed light on genetic abnormalities in hematopoietic stem/progenitor cells as the precursor to ALL pathogenesis. Based on these genetic abnormalities, ALL is now being reclassified into newly identified subtypes....

It is estimated that hereditary hearing loss accounts for 60% of deafness in the developed countries. About 30% of hereditary hearing impairment is syndromic which involves other presenting abnormalities along with deafness. There are more than 400 syndromes which include various degrees of hearing impairment with different phenotypes. (Barlow Stewart et al., 2007; Berrettini et al., 2008). Abn...

Thyroid diseases in children and adolescents include acquired or congenital conditions, including genetic disorders either isolated part of a syndrome. Briefly, we will review the physiology pathophysiology thyroid gland its disorders. The aim this chapter is to describe abnormalities gland.

Objective: To define the incidence of brain and kidney anomalies in newborns with significant congenital heart disease admitted to the cardiac intensive care unit at Nicklaus Children’s Hospital. Study Design: A retrospective chart review of head and renal ultrasound was studied for newborns who were admitted with significant congenital heart disease to Nicklaus Children’s Hospital cardiac inte...

to report the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and periodontal disease and soft tissue alterations, in a subject with apert syndrome. clinical and radiographic examination of a patient with apert syndrome, aged 21 years old, not previously submitted for orthodontic or orthognathic treatment. dental anomalies were present in a pa...

orofacial clefts, including cleft lip with or without cleft palate (cl (p)), are common congenital malformations, second only to clubfoot in frequency of occurrence. the epidemiology and genetics of this disorder have been studied extensively in various countries by several investigators. the objective of this study is to assess the epidemiology and some genetic aspects of orofacial clefting at...

The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...

Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...

Fetal genetic disorders are abnormalities in structure or function caused by differences in the genome that are distinct from those primarily caused by environmental or other disruptive factors. Increasingly, it is recognized that these distinctions are not always clear. A genetic predisposition may increase a person’s susceptibility to environmental influences, and some genetic abnormalities m...