trisomy 21

trisomy 21

n.

See Down syndrome.

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trisomy 21.

See Down syndrome.

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trisomy 21

Down syndrome, mongolism Pediatrics A chromosomal dysgenesis caused by partial or complete duplication of all or part of chromosome 21 appears 3 times; in some only some cells contain the chromosomal defect–ie, mosaicism Clinical MR, microcephaly, short stature, a characteristic facial dysmorphia–flat hypoplastic facies, short/flat nose, upward slanting eyes–Mongolian slant; inner corner of the eyes often has a rounded fold of skin–epicanthal fold; small, low-set ears, thickened, protruding and fissured tongue, joint laxity, pelvic dysplasia, broad hands and feet with shortened digits, a single transverse palmar or simian crease, lenticular opacification, cardiac defects–eg, PDA, endocardial cushion defects, Fallot's tetralogy, esophageal atresia, duodenal atresia, muscle spasms, ↑ risk of ALL, retardation of growth and development is typical; most never reach average adult height Risk of DS ↑ with maternal age–0.7/1000 births ≤ age 30; 34.6/1000 ≥ age 45 Prognosis Compatible with long-term survival Incidence 1:900. See Maternal age.

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Patient discussion about trisomy 21.

Q. How is it possible to have permanent weight loss if dieting slows down metabolism? well, i know that eating less will have the body adjust to the new calorie intake and thus, no further weight loss. So how is it possible to have permanent weight loss if eating less doesn't work? Please give tips and suggestions, people who have successfully lost weight. thanks so much!

A. You touch an aching fact…our body is a genius machine that is built to save energy. When we loose fat tissue it stops sending a hormone named “Leptin” that is a one of the hormones that control our metabolism. The idea is to know this fact and continue with your diet as planed. A well balanced diet that is followed with regular physical effort will not loose weight as fast as it did on the first 2 months, but it’ll eventually do so. After loosing weight the important thing is to continue the life style you adapted until your body will regulate the amount of leptin it needs. Leptin is the cause people gain back their weight after a diet.

Q. Can Down syndrome occur again? A few years ago, at the age of 32 my sister gave birth to a child that was diagnosed with Down syndrome. Now, at the age of 37 she's pregnant again. Can she have another baby with Down? Does the fact she has a baby with Down means she has higher risk for a second baby with Down?

A. Yes, as far as I know your sister has a higher for another child with Down syndrome. She should informe her gynecologist about this and she may need to perform more tests during pregnancy.

Q. What kind of depression is characterized by waves? It's not a constant depression, like if you can be happy but then you feel the depression creeping up on you, like a wave, lasts for a few to several days/weeks? Is there even a name for it?

A. When depression is serious enough to require treatment, it is called clinical depression. When the symptoms are more severe, someone is said to be suffering from major depression. This condition tends to be episodic in nature. In that case – there is a treatment that can help preventing that! go to a psychiatrist.