Karyotypic analysis of syndromes, Kilnefelter, Turner , Patau, Edward, Down, Cri-du Chat

PPT explains how to interpret a karyotype and any disorder if present

1. PRACTICAL 6 KARYOTYPE/IDEOGRAM ANALYSIS FOR THE SYNDROMES WITH COMMENTS ON NUMERICAL AND STRUCTURAL VARIATIONS IN CHROMOSOMES TYBSc ZOOLOGY SEMESTER VI PRACTICAL ; 03 DATE ; 25/11/2021 THURSDAY

2. KARYOTYPE ; A SET OF CHROMOSOMES OF INDIVIDUAL SPECIES IS CALLED AS KARYOTYPE MORPOLOGICAL CONTRAST BETWEEN THE CHROMOSOMES ON THE BASIS OF Chromosome Number Relative length Chromosome set Position of centromere

3. NORMAL HUMAN KARYOTYPE A; long metacentric B; long sub-metacentric C; medium sized sub metacentric D; large acrocentric E; small sub metacentric F; small metacentric Small acrocentric NORMAL HUMAN MALE KARYOTYPE 22 PAIRS OF AUTOSOMES A PAIR OF SEX CHROMOSOMES 46 XY

4. NORMAL HUMAN FEMALE KARYOTYPE

5. GROSS MUTATIONS chromosome number; occurs due to non -disjunction chromosome structure

6. The number of sets of chromosomes in a cell or an organism. Haploid/diploid ANEUPLOIDY; numerical change occur in particular pair of chromosome while rest all pairs are normal HYPERANEUPLOIDY ; CH NUMBER INCREASE HYPOANEUPLOIDY; CHROMOSOME NUMBER DECREASE Euploidy Complete set of chromosome is extra or deleted. Not seen in animals Seen in different species of wheat Types of aneuploidy

7. SYNDROME CHROMOSOMAL ABNORMILITY KARYOTYPE /number of chromosomes Discovered by Year Turner Syndrome XO 44+XO (45) Dr.Henry Turner 1938 Klinefelter’s syndrome XXY 44+XXY (47) Dr. Harry Klinefelter 1942 Patau syndrome trisomy 13 47 Dr. Klaus Patau 1960 Edward syndrome trisomy 18 47 John Edward Down’s syndrome Trisomy 21 47 Dr. John Langdon down : described 1 st. Dr, Lejeune : identified it as chromosomal condition Dr. John : 1866 Dr.Lejeune : 1959 Cri-Du-Chat syndrome 5q arm deletion 46 Jerome Lejeune 1963 D-G translocation (A form of Robertsonian Translocation) Place of 21 st chromosome is changed and joines to 15 th chromosome 46 --- ----

8. TURNER SYNDROME; monosomy of sex ch KARYOTYPE DEPICTING TURNER SYNDROME

9. A. TURNER’S SYNDROME TOTAL NO. OF CHROMOSOMES =45 I t is an example of chromosomal aneuploidy . M onosomy of sex chromosme Discovered by Dr. Henry T urner :1938 Caused when in a female cell one normal x ch and the other sex ch is missing or structurally altered happens due to non-disjunction during formation of gamates . SYMPTOMS : Female h aving turner syndrome shows following symptoms Stunted growth evident by the age 5 Underdeveloped ovary : Ova not produced: sterile female. Overies are small: No sex hormones produced: Poorly or No secondary sexual characters developed Webbed neck, prominent folds of skin at the corner of eyes ( Epicanthal folds), Puffy hands and skin. Distinctive heart, kidney, liver abnormalities are present

10. PATAU SYNDROME; 13 trisomy KAROTYPE DEPICTING PATAU SYNDROME

11. B. PATAU’S SYNDROME TOTAL NUMBER OF CHROMOSME= 47 Dr. Klaus Patau 1960 Trisomy 13 : Hyperploidy Chromosome 13 is present in 3 copies Caused by nondiscjunction of ch 13

12. C. EDWARD’S SYNDROME Total no. of ch ; 47, trisomy 18 British geneticist John Edward ;1960 Non-disjunction of ch 18 At first or second meiotic division in either of the parents 3 copies of ch 18 are present Hyperaneuploidy KARYOTYPE DEPICTING EDWARD SYNDROME

13. DOWN’S SYNDROME ; 21 trisomy

14. DOWN’S SYNDROME/MONGOLISM Total number of chromosomes ; 47 ; trisomy 21 First described by; 1866 ; Dr. John Langdon Down 1959; F rench physician ; jerome Lejeune ;identifies it as chromosomal condition Hyperploidy SYMPTOMS; 4 feet tall; webbed neck Round face with epicanthal folded eyes Constantly open mouth, malformed ears, flattened nose Congential heart defects, hand and feet defects Mild to moderate developmental disability, impulsive behavior, short attention span, poor judgement, slow learning capacity

15. Dr. HARRY KLINEFELTER TRISOMY OF SEX CHROMOSOME TOTAL CH ; 47 – 2X AND 1 Y : 47;XXY NON-DISJUNCTION OF SEX CHROMOSMES DURING MEIOSIS EITHER IN MALE OR FEMALE. SYMPTOMS; M ale with small testes, produce less testosterone Gynecomastia –breast enlargement P oorly developed secondary sexual characters , reduced facial/body hair/infertile U nderdeveloped genitalia libs are longer than average

16. KLINEFELTER’S SYNDROME

17. TOTAL NO. OF CH ; 46 5 P ARM DELETION JEROME LEJEUNE 1963 AUTOSOMAL ABONORMALITY SHORT ARM OF CHROMOSOME 5 IS DELETED DELETION OCCURS DURING GAMATE FORMATIONOR IN EARLY FOETAL DEVELOPEMNT SYMPTOMS it is associated with characteristiccry resembling that of kitten, cat like mewing microcephaly -small sized head eyes widely separated apart epicathal folds physical and mental retardation

18. D-G TRANSLOCATION F orm of R obertsonian translocation’ chromosomal aberration due to structural variation shows translocation between interchromaosomal pair. T he long arm of chromosome 21 –G group breaks at centromere, translocates and joins with long arm of ch 15 D GROUP One of the chromosome of 15 th pair appears longer than the homologus chromosome as place of 21 st ch is changed and gets translocated to 15 it is called D-G TRANSLOCATION SYMPTOMs person appears normal as there is no additon or deletion of chromosome high risk of having abnormal children Their children ; may be normal or carry fusion chromosome or they may inherit a missing or extra long arm of acrocentric chromosome

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