Warning!
The following transcript was generated automatically from the content and has not been checked or corrected manually.
CASE7 Mother and Child Unit Brought to you by: Dhanya Lakxmi Contents Congenital 01 Malformations/Teratology *insert image related to content* Chromosomal 02 Abnormalities 03 UnusualPatterns ofInheritance Congenital Malformations&Teratogenesis BirthDefect(def ): structural/functional/metabolicdisorderspresent at birth Causes: chromosomal abnormalities,environmental, multifactorial,unidentifiedorigin Teratogen(def ): anything disruptingdevelopment and producingmalformations(birthdefects) Main Principles:dosage, timeand length of exposure,genotype of embryo Drugsaffectingpregnancy: A) Accutane(VitA): serious teratogenand can cause seriousbirthdefects B) Lead, mercury,pesticides(agent Orange): can also cause defect s and affect the germ cells. In people already born C) Alcohol and tobacco: can cause alcohol fetal syndrome, low birthweight, increase riskof prematuredelivery and nicotine can constrictblood flow tothe placenta and impairdevelopment Chromosomal Abnormalities DownSyndrome (Trisomy 21) ● 47, XX, +21 ● 1 in 1000 (most common trisomy) ● Detected via antenatal scans, maternal serum screening or facial appearance at birth ● Developmental delay, intellectual disability ● Features* : low set ears, transverse palmar crease, flattened nose, upslanting palpebral fissures, short neck, short stature, sandal gap deformity, obesity and. 40% have a heart malformationEdwards Syndrome (Trisomy18) ● 47, XX, +18 ● 1 in 5000 (second most common) ● Severe developmental delay (seizures and structural abnormalities) ● Most are miscarried or don’t make it pass the 1 week after being born ● Arthrogryposis (Multiple joint contractures) th rd th ● Clenched hands with index and 5 fingers overriding 3 and 4 ● Rocker-bottom foot with prominent calcaneusPatau Syndrome (Trisomy 13) ● 47, XX, +13 ● 1 in 10,000 ● Polydactyl st ● High rates of miscarriage, 20% survive at 1 year ● Structural defects: rocker bottom feet, clenched hands, cleft palate, urogenital, heart SBA Alady attends aclinic A 1eggfertilised by1sperm after amiscarriage and thedoctor explains B 1eggfertilised by2sperms thatshehad asmall placenta andsmall C Diploid eggfertilised by2sperms foetus. Whichwasthe causeofthe D Diploid eggfertilised by1sperm miscarriage? E 1eggferilised bydiploid sperm SBA Alady attends aclinic A 1eggfertilised by1sperm after amiscarriage and thedoctor explains B 1eggfertilised by2sperms thatshehad asmall placenta andsmall C Diploid eggfertilised by2sperms foetus. Whichwasthe causeofthe D Diploid eggfertilised by1sperm miscarriage? E 1eggferilised bydiploid sperm Triploidy: Prescence of one extra set of chromosome Diandry Digyny ● Diploid egg fertilized by a single ● Egg fertilized by 2 sperms ● Egg fertilized by a diploid sperm sperm ● Features: larger placenta and small ● Small placenta, very small foetus foetus SBA A Turnerssyndrome Xpresents toaclinicwiththe followingsymptoms: tall B Klinelfelter syndrome stature, gynecomastia and C Triple Xsyndrome incomplete development of sexualcharacteristics. What doesthepatient have? D XYYsyndrome E Trisomy 21 SBA A Turnerssyndrome Xpresents toaclinicwiththe followingsymptoms: tall B Klinefelter syndrome stature, gynecomastia and C Triple Xsyndrome incomplete development of sexualcharacteristics. What doesthepatient have? D XYYsyndrome E Trisomy 21 SexChromosome Aneuploidy Klinefelter syndrome XYYsyndrome TurnerSyndrome ● 47, XXY ● 47, XYY ● 45 X ● Primary ● Most men are ● Monosomy X hypogonadism unaware ● Short stature, neck ● Pubertal ● Normal testosterone webbing, chest with gynecomastia and fertility widely spaced ● Small testes ● Increased risk of mild nipples, low set ears ● Tall stature developmental delay ● Lack of sexual ● Infertility ● Tall stature development ● Delayed/incomplete ● Normal intelligence sexual characteristics ● Heart defects SBA A Deletion What typeofchromosomal abnormality isdemonstrated inthediagram? B Robertsonian Translocation C Reciprocal Translocation D Duplication E Inversion SBA A Deletion What typeofchromosomal abnormality isdemonstrated inthediagram? B Robertsonian Translocation C Reciprocal Translocation D Duplication E Inversion RobertsonianTranslocation • Forms between homologous or non-homologous acrocentric chromosomes. • Can happen between (13,14,15,21,22,Y) • 13 and 14 are the most common • Carriers are phenotypically normal • Risk of miscarriage is normal, but carriers can present with infertility SBA A Cridu chat Joegetsdiagnosed witha syndrome thathasamaternal B Prader Willi Syndrome deletion ofchromosome 15. Whichsyndrome hasJoebeen C AngelmanSyndrome diagnosed with? D Trisomy 13 E Huntington’s syndrome SBA A Cridu chat Joegetsdiagnosed witha syndrome thathasamaternal B Prader Willi Syndrome deletion ofchromosome 15. Whichsyndrome hasJoebeen C AngelmanSyndrome diagnosed with? D Trisomy 13 E Huntington’s syndrome GenomicImprinting Whena gene’s expression is dependent on which parent it was inherited from AngelmanSyndrome (AS) Prader Willi Syndrome (PWS) ● Deletion inherited on Maternal ● Deletion inherited on Paternal chromosome 15 chromosome 15 ● Features: microcephaly, gait, ● Features: hyperphagia, obesity, ataxia, intellectual disability, short stature, hypogonadism, seizures, absent speech, Vs behavioural problems Uniparental disomy: obtain two copies of a chromosome from either parent Thankyou! Please fill in the feedback form Follow oursocials! *qr code* chips_cardiff Cardiff Healthcare International PerspectiveS
