Titlebook: Atlas of Genetic Diagnosis and Counseling; Harold Chen Book 2006Latest edition Humana Press 2006

insurrection

Intractable

Acardia, arterial perfusion (TRAP) syndrome or sequence. This condition is very rare and occurs 1 in 35,000 deliveries, 1 in 100 monozygotic twins, rarely in triplet pregnancy, and even in quintuplet gestations.

sigmoid-colon

Achondroplasia,oplasts in the USA and 65,000 on Earth. The incidence for achondroplasia is between 0.5 and 1.5 in 10,000 births. The mutation rate is high and is estimated to be between 1.72×10. and 5.57×10. per gamete per generation. Most infants with achondroplasia are born unexpectedly to parents of average stature.

Crepitus

固定某物

Androgen Insensitivity Syndrome,syndrome was first described by Morris in 1953 who coined the term testicular feminization syndrome, based on the observation of the complete absence of signs of virilization in phenotypic females with testes and a 46,XY karyotype.

不能約

Aplasia Cutis Congenita,group of disorders characterized by absence of epidermis, dermis, and, sometimes, subcutaneous tissue, muscle, or bone on one or more parts of the body. The incidence is estimated to be 1 in 10,000 births.

Generic-Drug

Ataxia Telangiectasia,ary infections, radiosensitivity, and a predisposition to malignancy. It is the most common cause of progressive cerebellar ataxia in childhood. The prevalence is estimated to be 1 in 40,000 to 1 in 100,000 live births.

脫水

Beckwith-Wiedemann Syndrome,scribed three unrelated patients with exomphalos, hyperplasia of the kidneys and pancreas, and adrenal cytomegaly. Wiedemann in 1964 reported a familial form of omphalocele with macroglossia. The incidence is estimated to be about 1 in 13,700 births.

微不足道

https://doi.org/10.1007/978-1-84628-955-2 arterial perfusion (TRAP) syndrome or sequence. This condition is very rare and occurs 1 in 35,000 deliveries, 1 in 100 monozygotic twins, rarely in triplet pregnancy, and even in quintuplet gestations.

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