Event ID![]() ![]() |
Symptom: A unilateral cleft lip, midline cleft palate, hypertelorism, a broad and flat nasal bridge, small low-set ears, preauricular pits, proximally positioned thumbs, short distal phalanges, fifth digit clinodactyly, amptodactyly, and a hemangioma |
Event Information |
Precision: A![]() |
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Chromosome Rearrangement Type: Reciprocal Translocation![]() |
Chromosome: X, 1 |
Karyotype![]() |
Breakpoints Information: |
First Breakpoint![]() |
Location: q28 |
Exact position: ChrX: 153991521bp |
This breakpoint occurs in intron1 of NM_001142463.1. |
Second Breakpoint![]() |
Location: q21 |
Exact position: Chr1: 155119865bp |
This breakpoint occurs in an intergenic region |
Junction Sequence(5'): TGGCAAGGGCGCGAGAGTGGGAGCCCCTCGCGGTGACTTGGCATGATGGGGCTCGGCCCTCTCACCTCCCTGGGGTCCGGGTCGCCGTCGAAAGACATCTATGTATCTATTAAATAGATACATATTTATGTATCTATTAAATAGATACATATATTATATATATGTAAATTTTAGCTGGCATGGTAGAGCATGCCTATAGT |
Junction Sequence(3'): TCAAAAAAAATTTTTTTAATATATATTTTATTTAAATATGTATCTATAAAATATATACATATTTAAATATGTATCTATTAAATAGATACATATTTAAATATGCCGTGCTGCCCACCCCGCGGTGGCGTGGGACGTGGCAGTGTCTGTGCTGCTGCCAGCCCGGACGCCGCCGTTACAGCTCCATGCGACTAGGGGAGCAA |
The Junction Sequence is Inferred![]() |
Note: Green and Blue color indicate 5' and 3' sequence according to the breakpoint. |
Experimental Method: FISH, PCR, DNA sequencing |
Reference Information |
PubMed ID: 19215059 | ||||
Authors: Cottrell CE,Sommer A,Wenger GD,Bullard S,Busch T,Krahn KN,Lidral AC,Gastier-Foster JM | ||||
Journal: American journal of medical genetics. Part A |
Go to Genome Browser ( Click the image ) |
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