Sir Canga Ram Hospital

CytOgencti$ Labofatory

NameRegishation No.Lab RequestNo.Episode No.LocationRefened ByExtemal DoctorSpecimen

: LAI(SHAY,: t960861:2216002936: OP06141387CENTRAL I}.IVESTICATION CENTREKalawati HospitalKALAWATI HOSPITALBlood

AgdSexWardNo,RootlNo.LowloriTypeCollected 0nReqivedOnReported On

l 8 Yrs/lvfale

:'l Out Pafient: 14/1012A16 02:l9PM: 1011112016 03:l6PM: 16lll/201612:5lPM

Lab No G2437-16

lndication of Fanconi syndromethe test

Report Karyotype:46,XY

Technique used: Mytomlcin C stress test for chromosome breakage syndromewas done on cultured lyrnphocytes oftho patient and a normal control.Results with mytomycin C stress tesfi FiSy metaphases from each culture wereexamined

Cultured lymphocytes | % of metaphases showing breaks andI rearrangoments of chromosomesPatient Normal control

With mytomycin Yt IO

Without mytomycin 8 0

(Attached: Two karyotypes and two partial mdtaphases showing presence ofchromosome/chromatid brealcs and rearrangements)

(ln Chromosome breakages Syndromo, the chromosome breakages increase by l0to 100 fold over normat)

Comments The increased chromosome breaks and reanangements favor the diagnosis ofchromosome breakage syndrome ln this patient

Authorised signatories:Scientish:Dr Surbhi MahaiuRr.V\ /Dr Pushpa SaviJur \WDr Preeti Paliwal v

Dr IC Verm4 Chairmbnr lnstitute of Medical Geneticc & Gsnomicg

Scnior Consultant:Dr Mesna l^all (Cytogenetics Head)

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m'w*ffi Sir GanSa Ram Hospital Mar& Ralinder Nagar, New Delhl 110060, INDIA

Phones ; +91-11-2575fin0,42254000 Fax: +91-11-25861ffi2 Emall : gangaram@qrh.com Website : www.sgrh.com

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Lab No. G2437-L6 Name of patlent: IAKSHAYSample: BloodKaryotype of metaphase no.l

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Slr Ganga mm Hospibl MaB, Ralnder Nagar, l{uv Delhl 11qX0, INDIA

Phones : +91-11-25750000,42254m0 Fa : +91-11-25851O2 Emall : gangnm@lgrh.com Website : wwwsg*.com

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ITTIIMUNOGEN ETICS TE$T' REOUSMON FIORII,IHEMATOPOTETIC STEM CELL TRANSPLANTATION

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PATIENT IDPATIENT'AGE / SEXREF BY

99173MST. LAKSHAY S/O BAL RAMI YRS / lvl

REP: DATE:1110112017REP TIME: 10:40 AM

AIIMS HOSPITAL

pi:trr.. " arl ULTRASOUND WHOLE ABDOMEN

Known case of Fanconi anaemia' i

Liver: r, - .^ ^-r r^^r-N-?f size (94 mm) and notm-al echotexture' No focal lesion is seen'

lntrahepatic biliary radical are riormal. Portal vein is normal.

CBD is normal & shows echofree lumen'Gall Bladder:W"llaiste"d"d. Wallthickness is normal. No mass lesion

Pancreas:Norm-at irrsize and echotexture. Peripancreatic fat planes

/ calculus is seen.

are maintained.

Spleen:t iormal in size (64 mm) and echotexture'Kidnevs:iiffi x*ian"ys are fused in midline at lower pole anterior to vertebra with isthmus

measuring approx' 6.5 mm. ,,- -:-- ----Right kidney: Normal rn size (76 mm) and echotexture. No mass /lesion seen' *

Coii.o*"ojlary differentiation is maintained. No hydronephrosis I calculus is seen.

Left kidney: Normal in size (7g mm) and echotexture. No mass /lesion seen. corticomedullary

differentiation is maintalned. No hydronephrosis / calcufus is seen.

Urinarv Bladder:WelGisfeiled Wall thickness is normal. No mass / calculus is seen'

No significant abdominal lymphadenopathy are seen' No free fluid is seen'

IMPRESSION:-+ Horseshoe kidneYs' -.'.

Please corretate clinically and with other relevant investigations.

Dr. Akanksha GuPtaMBBS, DNBConsultant RadiologistDMC NO44106

\or. xapil[ggrr*rlr'neAS, OUe \fConsultant n{\1glstDMC N0-509A}6

Dr. Manish GuPtaDNB, RadiodiagnosisConsultant RadiologistDMC NO-25356 *

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