Genetic and Pediatric Diseases

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Presentation transcript:

Genetic and Pediatric Diseases Chapter 6

جلسه دوم دكتر پورلك

CYTOGENETIC DISORDERS Cytogenetic Disorders Involving Autosomes Cytogenetic Disorders Involving Sex Chromosomes

Cytogenetic Disorders Involving Autosomes Trisomy 21 (Down Syndrome) TRISOMY 18: EDWARDS SYNDROME TRISOMY 13: PATAU SYNDROME

یافته غیرطبیعی و نام بیماری چیست؟

Trisomy 21 (Down Syndrome): abnormal transverse crease across the palm of each hand

یافته غیرطبیعی و نام بیماری چیست؟

trisomy 18 (e.g., 47, XY, +18). The face is small in proportion to the head, with micrognathia.

یافته غیرطبیعی و نام بیماری چیست؟

camptodactyly (fingers bent over) and clinodactyly (fingers inclined to one side or the other). trisomy 18

"یافته غیرطبیعی و نام بیماری چیست؟

rocker bottom" foot with a prominent calcaneus and rounded bottom . trisomy 18

نام عارضه و بیماری احتمالی چیست؟

a large bilateral cleft lip TRISOMY 13: PATAU SYNDROME

PEDIATRIC DISEASES

دو عارضه در این تصویر کدامند؟

Polydactyly (one or more extra digits) and syndactyly (fusion of digits)

عارضه عامل ناهنجاری چیست؟

عارضه عامل ناهنجاری چیست؟

Amniotic bands are a frequent cause of disruptions.

Amniotic bands are a frequent cause of disruptions. the placenta is at the right of the diagram, and the band of amnion extends from the top portion of the amniotic sac to encircle the leg of the fetus.

بیماری چیست؟

the oligohydramnios (Potter) sequence

Infant with oligohydramnios (Potter) sequence Note flattened facial features and deformed foot (talipes equinovarus).

نام بیماری چیست؟

"Potter's facies" with prominent infraorbital folds

نام عارضه چیست؟

نام عارضه چیست؟

pulmonary hypoplasia

The most serious consequence of oligohydramnios is pulmonary hypoplasia. Note the extremely small lungs in this case on each side of the heart in the middle of the chest.

عارضه ریوی جنین چیست؟

pulmonary hypoplasia

Microscopic examination of the lung reveals no alveolar development, only tubular bronchioles incapable of significant gas exchange, in this premature baby with pulmonary hypoplasia from oligohydramnios.