Image Based Questions On Genetics

Mitochondrial Inheritance 

All children born to a mother are affected suggesting mitochondrial inheritance.

Fragile X-syndrome 

Trinucleotide repeat disorder Features - · Elongated face · Large ears · Prominent /squared chin · Large testis · Large head size.

Karyotyping

Image shows 46 Chromosomes, XX (seen in normal female)

Also Read: Genetic Disorders - Basics, Multifactorial/polygenic inheritance 

Down Syndrome 

3 copies of chromosome 21 - Trisomy 21 · Female patient as no Y chromosome is present.

Features · Mongoloid slant of eyes · Depressed bridge of nose · Low set ears · Epicanthal folds · Protruding tongue · Flat occiput · Clinodactyly · Simian crease (single palmer crease) · Sandle gap (↑ed gap between great toe & other fingers).

Turner Syndrome 

45 XO, always seen in females · Lymphedema of hands & feet · Shield shaped chest with widely spaced nipples · Low posterior hair line · Webbed neck.

Also Read: Infections of the Upper Airway- Common Cold and Sinusitis

Noonan Syndrome 

Autosomal dominant Features · An-mangoloid slant of eyes · Low set ears · Pulmonary stenosis · Webbed neck.

Pierre-Robin Sequence 

Micrognathia- small chin · Retrognathia · Airway obstruction.

Also Read: Aneuploidies Including Turner And Klinefelter Syndrome

Treacher Collin Syndrome 

Coloboma of lower eyelid · Malar / Maxillary hypoplasia (under-developed chin) · Malformed ears.

Marfan's syndrome 

Tall child · Pectus excavatum · Arachnodactyly · Thumb sign – thumb protruding beyond hypothenar eminence.

Also Read: Marfan Syndrome : Signs, Diagnosis, Management and Prognosis

William Syndrome 

Microdeletion in chromosome 7 Features · Upturned nostrils · Puffiness around eyes · Thick lips · Friendly personality.

Also Read: KEY POINTS AND RECOMMENDATIONS IN PEDIATRIC ADVANCED LIFE SUPPORT

Hope you found this blog helpful for your NEET SS Genetic Disorders preparation. For more informative and interesting posts like these, keep reading PrepLadder’s blogs.